Mutagenetix > Incidental Mutation

Incidental Mutation 'R1445:Dsp'

158816

Institutional Source

Beutler Lab

Gene Symbol

Dsp

Ensembl Gene

ENSMUSG00000054889

Gene Name

desmoplakin

Synonyms

5730453H04Rik, DP, 2300002E22Rik

MMRRC Submission

039500-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1445 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38151294-38198577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38191931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1231 (T1231A)

Ref Sequence

ENSEMBL: ENSMUSP00000115062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124830] [ENSMUST00000127906]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000124830
AA Change: T1231A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: T1231A

Domain	Start	End	E-Value	Type
Blast:SPEC	193	282	2e-51	BLAST
SPEC	285	385	6.03e-2	SMART
Blast:SPEC	391	557	1e-96	BLAST
Blast:SPEC	783	894	4e-34	BLAST
SPEC	901	1030	1.39e0	SMART
coiled coil region	1033	1370	N/A	INTRINSIC
coiled coil region	1394	1956	N/A	INTRINSIC
low complexity region	1997	2011	N/A	INTRINSIC
PLEC	2021	2057	3.33e-1	SMART
PLEC	2058	2095	3.76e-9	SMART
PLEC	2096	2133	4.09e-10	SMART
PLEC	2134	2171	2.09e-7	SMART
PLEC	2175	2209	4.83e1	SMART
PLEC	2210	2245	5.67e1	SMART
PLEC	2263	2300	1.22e-8	SMART
PLEC	2301	2338	1.16e-9	SMART
PLEC	2339	2376	1.12e-7	SMART
PLEC	2377	2414	1.56e-6	SMART
PLEC	2418	2452	1.42e0	SMART
PLEC	2468	2505	3.7e-8	SMART
low complexity region	2507	2517	N/A	INTRINSIC
PLEC	2519	2556	3.73e-4	SMART
low complexity region	2577	2593	N/A	INTRINSIC
PLEC	2622	2659	1.46e-6	SMART
PLEC	2660	2697	6.69e-15	SMART
PLEC	2698	2735	1.98e2	SMART
PLEC	2736	2773	2.35e-10	SMART
PLEC	2774	2811	1.39e-3	SMART
low complexity region	2835	2860	N/A	INTRINSIC
low complexity region	2867	2879	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127906

SMART Domains

Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889

Domain	Start	End	E-Value	Type
Blast:SPEC	193	282	2e-51	BLAST
SPEC	285	385	6.03e-2	SMART
Blast:SPEC	391	557	1e-95	BLAST
Blast:SPEC	783	894	3e-34	BLAST
SPEC	901	1030	1.39e0	SMART
coiled coil region	1033	1357	N/A	INTRINSIC
low complexity region	1398	1412	N/A	INTRINSIC
PLEC	1422	1458	3.33e-1	SMART
PLEC	1459	1496	3.76e-9	SMART
PLEC	1497	1534	4.09e-10	SMART
PLEC	1535	1572	2.09e-7	SMART
PLEC	1576	1610	4.83e1	SMART
PLEC	1611	1646	5.67e1	SMART
PLEC	1664	1701	1.22e-8	SMART
PLEC	1702	1739	1.16e-9	SMART
PLEC	1740	1777	1.12e-7	SMART
PLEC	1778	1815	1.56e-6	SMART
PLEC	1819	1853	1.42e0	SMART
PLEC	1869	1906	3.7e-8	SMART
low complexity region	1908	1918	N/A	INTRINSIC
PLEC	1920	1957	3.73e-4	SMART
low complexity region	1978	1994	N/A	INTRINSIC
PLEC	2023	2060	1.46e-6	SMART
PLEC	2061	2098	6.69e-15	SMART
PLEC	2099	2136	1.98e2	SMART
PLEC	2137	2174	2.35e-10	SMART
PLEC	2175	2212	1.39e-3	SMART
low complexity region	2236	2261	N/A	INTRINSIC
low complexity region	2268	2280	N/A	INTRINSIC

Meta Mutation Damage Score

0.0930

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 84.0%

Validation Efficiency

96% (101/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	G	T	3: 117,067,736 (GRCm38)		noncoding transcript	Het
2300003K06Rik	G	T	11: 99,837,967 (GRCm38)	Q17K	probably benign	Het
Abca16	T	C	7: 120,520,033 (GRCm38)	V999A	probably benign	Het
Actn3	C	T	19: 4,865,455 (GRCm38)		probably benign	Het
Agap2	T	A	10: 127,091,112 (GRCm38)		probably benign	Het
Ago3	C	A	4: 126,371,787 (GRCm38)	R278L	probably benign	Het
Aldh1a2	T	C	9: 71,285,210 (GRCm38)	V449A	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Aplnr	A	G	2: 85,137,009 (GRCm38)	Y126C	probably damaging	Het
Apob	T	C	12: 8,016,084 (GRCm38)	I4351T	possibly damaging	Het
Ash1l	T	C	3: 89,007,352 (GRCm38)	L1763P	probably benign	Het
Aspn	T	C	13: 49,557,373 (GRCm38)	S165P	possibly damaging	Het
Atg13	A	T	2: 91,679,990 (GRCm38)	V349E	probably damaging	Het
Atp1b2	T	A	11: 69,602,483 (GRCm38)		probably null	Het
B3glct	A	T	5: 149,754,139 (GRCm38)	D411V	probably damaging	Het
Bcar3	A	T	3: 122,523,191 (GRCm38)	I255F	probably damaging	Het
Cacna1b	G	A	2: 24,718,136 (GRCm38)		probably benign	Het
Cep164	T	G	9: 45,778,900 (GRCm38)	E675A	possibly damaging	Het
Chd1l	C	T	3: 97,582,731 (GRCm38)	E503K	probably benign	Het
Chst8	C	A	7: 34,748,168 (GRCm38)	M8I	possibly damaging	Het
Clec4n	A	G	6: 123,235,516 (GRCm38)	E67G	probably benign	Het
Cobll1	A	T	2: 65,099,136 (GRCm38)	D653E	probably damaging	Het
Col9a1	T	C	1: 24,237,498 (GRCm38)		probably null	Het
Crip2	T	C	12: 113,143,504 (GRCm38)	L30P	probably damaging	Het
Ctbp1	C	T	5: 33,261,063 (GRCm38)	V22I	probably benign	Het
Cwc22	T	C	2: 77,917,177 (GRCm38)		probably benign	Het
Cyp4a32	C	A	4: 115,602,950 (GRCm38)	Y119*	probably null	Het
Dido1	G	T	2: 180,671,470 (GRCm38)	A463E	possibly damaging	Het
Dnah7a	G	A	1: 53,528,797 (GRCm38)	P1880L	probably benign	Het
Dock2	T	A	11: 34,239,705 (GRCm38)	T1489S	probably benign	Het
Eif2ak1	G	T	5: 143,873,899 (GRCm38)		probably benign	Het
Epc1	A	T	18: 6,452,360 (GRCm38)	M233K	probably damaging	Het
Fam189a2	G	A	19: 24,021,634 (GRCm38)	T140M	probably damaging	Het
Gigyf2	A	G	1: 87,443,638 (GRCm38)		probably benign	Het
Greb1	T	G	12: 16,707,851 (GRCm38)	H58P	probably damaging	Het
Gtpbp1	T	C	15: 79,713,448 (GRCm38)	I348T	possibly damaging	Het
Hck	A	T	2: 153,128,272 (GRCm38)	N64Y	probably benign	Het
Herc2	T	C	7: 56,168,996 (GRCm38)	S2812P	probably damaging	Het
Inpp4b	T	A	8: 81,952,834 (GRCm38)		probably null	Het
Kcnq5	A	C	1: 21,405,024 (GRCm38)	S473A	probably benign	Het
Lrat	T	G	3: 82,903,369 (GRCm38)	D115A	probably damaging	Het
Lyst	A	G	13: 13,640,054 (GRCm38)	I1131M	possibly damaging	Het
Man2a2	T	C	7: 80,368,562 (GRCm38)	D160G	probably benign	Het
Marf1	C	T	16: 14,115,824 (GRCm38)	D1567N	probably benign	Het
Mars	T	C	10: 127,297,988 (GRCm38)	D680G	possibly damaging	Het
Mat1a	T	C	14: 41,121,840 (GRCm38)	S339P	probably damaging	Het
Megf8	T	C	7: 25,342,656 (GRCm38)	S1300P	probably damaging	Het
Mga	T	C	2: 119,902,698 (GRCm38)	L9S	probably damaging	Het
Mllt6	T	C	11: 97,672,451 (GRCm38)		probably benign	Het
Mrpl37	A	G	4: 107,064,495 (GRCm38)	L179P	probably benign	Het
Mtnr1a	G	T	8: 45,087,745 (GRCm38)	V248L	probably benign	Het
Mylk	T	C	16: 34,815,465 (GRCm38)	S19P	possibly damaging	Het
Olfr738	A	G	14: 50,414,401 (GRCm38)	T286A	probably damaging	Het
Parp8	A	T	13: 117,025,350 (GRCm38)		probably null	Het
Pcnx2	T	C	8: 125,752,284 (GRCm38)	D2075G	probably damaging	Het
Pigo	A	T	4: 43,021,460 (GRCm38)	I494K	probably benign	Het
Pkd1l1	A	T	11: 8,870,313 (GRCm38)	D1217E	probably benign	Het
Pkhd1l1	T	C	15: 44,505,644 (GRCm38)	V895A	probably benign	Het
Plcb4	A	T	2: 136,000,189 (GRCm38)	H1031L	possibly damaging	Het
Plxnb1	A	G	9: 109,108,921 (GRCm38)	K1245R	probably null	Het
Pold1	C	T	7: 44,542,757 (GRCm38)		probably benign	Het
Ptprq	T	C	10: 107,662,562 (GRCm38)	I885V	probably damaging	Het
Ptprz1	A	G	6: 23,050,474 (GRCm38)	D1398G	probably damaging	Het
Pygm	G	A	19: 6,389,887 (GRCm38)	A364T	probably benign	Het
Rbl1	T	C	2: 157,193,098 (GRCm38)	N354S	probably benign	Het
Scgb2b19	C	T	7: 33,279,612 (GRCm38)		probably null	Het
Slc26a8	C	T	17: 28,648,213 (GRCm38)	V545M	possibly damaging	Het
Slc27a1	T	A	8: 71,584,113 (GRCm38)		probably null	Het
Smpd1	A	G	7: 105,556,674 (GRCm38)	D416G	possibly damaging	Het
Sorbs3	A	G	14: 70,193,646 (GRCm38)	V284A	probably benign	Het
Stfa2l1	T	C	16: 36,161,784 (GRCm38)	V75A	probably damaging	Het
Syndig1	A	G	2: 149,930,921 (GRCm38)	D166G	probably damaging	Het
Tcp10a	G	A	17: 7,326,007 (GRCm38)		probably null	Het
Themis2	T	A	4: 132,782,901 (GRCm38)	I663F	possibly damaging	Het
Thrap3	T	C	4: 126,176,336 (GRCm38)	Q586R	probably damaging	Het
Tinag	C	A	9: 77,045,516 (GRCm38)	C62F	probably damaging	Het
Tmem206	A	G	1: 191,348,362 (GRCm38)		probably benign	Het
Tmod1	T	C	4: 46,090,884 (GRCm38)	Y146H	probably damaging	Het
Tmprss4	T	A	9: 45,184,385 (GRCm38)	I54F	possibly damaging	Het
Tnks	A	C	8: 34,834,603 (GRCm38)		probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989 (GRCm38)		probably benign	Het
Trpc6	A	G	9: 8,680,537 (GRCm38)	E844G	probably benign	Het
Ubtd2	C	T	11: 32,516,125 (GRCm38)	R115W	probably damaging	Het
Ubxn6	T	C	17: 56,069,042 (GRCm38)	D373G	probably benign	Het
Upf1	T	A	8: 70,341,524 (GRCm38)	Q244L	probably benign	Het
Usp33	A	G	3: 152,368,634 (GRCm38)	I372M	probably damaging	Het
Usp34	A	G	11: 23,351,629 (GRCm38)	E351G	probably damaging	Het
Utrn	A	G	10: 12,678,574 (GRCm38)		probably benign	Het
Vmn1r78	A	G	7: 12,152,581 (GRCm38)	K40E	possibly damaging	Het
Vmn2r7	T	A	3: 64,724,802 (GRCm38)	M80L	probably benign	Het
Vps13a	G	T	19: 16,701,238 (GRCm38)	Y1126*	probably null	Het
Wfdc11	T	C	2: 164,664,446 (GRCm38)	N60S	probably benign	Het
Wnk2	C	T	13: 49,071,110 (GRCm38)	D992N	probably damaging	Het
Zpbp2	C	A	11: 98,553,844 (GRCm38)	T66K	probably damaging	Het

Other mutations in Dsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Dsp	APN	13	38,197,846 (GRCm38)	missense	probably damaging	0.99
IGL01337:Dsp	APN	13	38,192,687 (GRCm38)	missense	probably benign	0.44
IGL01371:Dsp	APN	13	38,193,617 (GRCm38)	missense	probably benign	0.13
IGL01473:Dsp	APN	13	38,167,571 (GRCm38)	missense	probably damaging	0.99
IGL01660:Dsp	APN	13	38,176,495 (GRCm38)	missense	possibly damaging	0.90
IGL01723:Dsp	APN	13	38,179,084 (GRCm38)	missense	probably damaging	1.00
IGL01999:Dsp	APN	13	38,181,186 (GRCm38)	missense	probably damaging	0.99
IGL02313:Dsp	APN	13	38,196,523 (GRCm38)	nonsense	probably null
IGL02833:Dsp	APN	13	38,192,921 (GRCm38)	missense	possibly damaging	0.56
IGL03050:Dsp	APN	13	38,188,445 (GRCm38)	splice site	probably benign
IGL03353:Dsp	APN	13	38,186,695 (GRCm38)	missense	probably damaging	1.00
R0052:Dsp	UTSW	13	38,197,364 (GRCm38)	missense	possibly damaging	0.93
R0052:Dsp	UTSW	13	38,197,364 (GRCm38)	missense	possibly damaging	0.93
R0078:Dsp	UTSW	13	38,196,017 (GRCm38)	missense	probably benign	0.22
R0230:Dsp	UTSW	13	38,197,705 (GRCm38)	missense	probably benign	0.03
R0234:Dsp	UTSW	13	38,187,893 (GRCm38)	missense	probably benign	0.13
R0234:Dsp	UTSW	13	38,187,893 (GRCm38)	missense	probably benign	0.13
R0285:Dsp	UTSW	13	38,172,794 (GRCm38)	missense	probably benign
R0326:Dsp	UTSW	13	38,192,870 (GRCm38)	nonsense	probably null
R0332:Dsp	UTSW	13	38,182,228 (GRCm38)	nonsense	probably null
R0471:Dsp	UTSW	13	38,193,350 (GRCm38)	nonsense	probably null
R0567:Dsp	UTSW	13	38,192,438 (GRCm38)	missense	probably benign	0.01
R0611:Dsp	UTSW	13	38,187,741 (GRCm38)	missense	probably damaging	1.00
R0718:Dsp	UTSW	13	38,196,764 (GRCm38)	missense	possibly damaging	0.80
R0926:Dsp	UTSW	13	38,183,218 (GRCm38)	missense	probably damaging	0.97
R1078:Dsp	UTSW	13	38,183,106 (GRCm38)	splice site	probably benign
R1183:Dsp	UTSW	13	38,191,740 (GRCm38)	nonsense	probably null
R1188:Dsp	UTSW	13	38,194,963 (GRCm38)	missense	probably damaging	1.00
R1419:Dsp	UTSW	13	38,186,695 (GRCm38)	missense	probably damaging	1.00
R1467:Dsp	UTSW	13	38,192,712 (GRCm38)	missense	probably benign	0.00
R1467:Dsp	UTSW	13	38,192,712 (GRCm38)	missense	probably benign	0.00
R1478:Dsp	UTSW	13	38,181,138 (GRCm38)	missense	probably damaging	1.00
R1568:Dsp	UTSW	13	38,175,147 (GRCm38)	missense	probably damaging	1.00
R1572:Dsp	UTSW	13	38,195,738 (GRCm38)	missense	probably damaging	1.00
R1676:Dsp	UTSW	13	38,193,374 (GRCm38)	nonsense	probably null
R1736:Dsp	UTSW	13	38,192,990 (GRCm38)	missense	probably benign	0.01
R1776:Dsp	UTSW	13	38,196,617 (GRCm38)	missense	probably damaging	0.99
R1829:Dsp	UTSW	13	38,193,195 (GRCm38)	missense	probably damaging	1.00
R1878:Dsp	UTSW	13	38,164,855 (GRCm38)	missense	possibly damaging	0.53
R2013:Dsp	UTSW	13	38,191,458 (GRCm38)	missense	probably damaging	1.00
R2161:Dsp	UTSW	13	38,196,451 (GRCm38)	missense	probably damaging	1.00
R2187:Dsp	UTSW	13	38,176,407 (GRCm38)	missense	probably damaging	1.00
R2295:Dsp	UTSW	13	38,197,046 (GRCm38)	missense	probably benign	0.28
R2495:Dsp	UTSW	13	38,193,477 (GRCm38)	missense	possibly damaging	0.91
R2566:Dsp	UTSW	13	38,196,404 (GRCm38)	missense	probably damaging	1.00
R2888:Dsp	UTSW	13	38,192,248 (GRCm38)	missense	possibly damaging	0.92
R3012:Dsp	UTSW	13	38,193,342 (GRCm38)	missense	possibly damaging	0.61
R3614:Dsp	UTSW	13	38,177,199 (GRCm38)	missense	probably damaging	0.98
R3725:Dsp	UTSW	13	38,197,618 (GRCm38)	missense	probably benign	0.00
R3725:Dsp	UTSW	13	38,194,689 (GRCm38)	splice site	probably null
R3797:Dsp	UTSW	13	38,177,284 (GRCm38)	critical splice donor site	probably null
R3841:Dsp	UTSW	13	38,197,705 (GRCm38)	missense	probably benign
R4030:Dsp	UTSW	13	38,191,428 (GRCm38)	missense	possibly damaging	0.84
R4124:Dsp	UTSW	13	38,186,713 (GRCm38)	missense	probably damaging	1.00
R4279:Dsp	UTSW	13	38,185,231 (GRCm38)	missense	probably damaging	1.00
R4334:Dsp	UTSW	13	38,196,664 (GRCm38)	missense	possibly damaging	0.46
R4419:Dsp	UTSW	13	38,195,132 (GRCm38)	missense	probably damaging	1.00
R4615:Dsp	UTSW	13	38,191,632 (GRCm38)	missense	probably damaging	0.98
R4627:Dsp	UTSW	13	38,168,641 (GRCm38)	missense	probably benign	0.01
R4639:Dsp	UTSW	13	38,196,784 (GRCm38)	missense	probably damaging	1.00
R4687:Dsp	UTSW	13	38,191,619 (GRCm38)	missense	probably damaging	1.00
R4735:Dsp	UTSW	13	38,196,040 (GRCm38)	missense	probably damaging	0.99
R4746:Dsp	UTSW	13	38,195,104 (GRCm38)	missense	possibly damaging	0.51
R4772:Dsp	UTSW	13	38,167,528 (GRCm38)	nonsense	probably null
R4830:Dsp	UTSW	13	38,192,864 (GRCm38)	missense	probably benign
R4850:Dsp	UTSW	13	38,192,469 (GRCm38)	missense	probably damaging	1.00
R4959:Dsp	UTSW	13	38,191,710 (GRCm38)	missense	probably benign	0.41
R4963:Dsp	UTSW	13	38,197,870 (GRCm38)	missense	probably damaging	0.99
R4969:Dsp	UTSW	13	38,192,910 (GRCm38)	missense	probably benign	0.00
R4978:Dsp	UTSW	13	38,182,234 (GRCm38)	missense	probably damaging	1.00
R4989:Dsp	UTSW	13	38,197,702 (GRCm38)	missense	possibly damaging	0.93
R5068:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5069:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5070:Dsp	UTSW	13	38,197,123 (GRCm38)	missense	possibly damaging	0.78
R5133:Dsp	UTSW	13	38,197,702 (GRCm38)	missense	possibly damaging	0.93
R5138:Dsp	UTSW	13	38,195,845 (GRCm38)	missense	possibly damaging	0.50
R5138:Dsp	UTSW	13	38,183,298 (GRCm38)	missense	probably benign	0.37
R5153:Dsp	UTSW	13	38,182,306 (GRCm38)	missense	probably damaging	1.00
R5199:Dsp	UTSW	13	38,192,902 (GRCm38)	nonsense	probably null
R5226:Dsp	UTSW	13	38,186,770 (GRCm38)	missense	probably damaging	0.99
R5265:Dsp	UTSW	13	38,195,183 (GRCm38)	missense	possibly damaging	0.95
R5371:Dsp	UTSW	13	38,194,889 (GRCm38)	missense	probably damaging	0.97
R5484:Dsp	UTSW	13	38,184,038 (GRCm38)	missense	possibly damaging	0.48
R5534:Dsp	UTSW	13	38,195,842 (GRCm38)	missense	probably benign	0.01
R5569:Dsp	UTSW	13	38,192,652 (GRCm38)	missense	probably benign	0.01
R5854:Dsp	UTSW	13	38,167,501 (GRCm38)	splice site	probably null
R5910:Dsp	UTSW	13	38,192,469 (GRCm38)	missense	possibly damaging	0.95
R5929:Dsp	UTSW	13	38,195,434 (GRCm38)	missense	possibly damaging	0.92
R5940:Dsp	UTSW	13	38,196,026 (GRCm38)	missense	possibly damaging	0.70
R5948:Dsp	UTSW	13	38,195,401 (GRCm38)	missense	possibly damaging	0.95
R5955:Dsp	UTSW	13	38,194,958 (GRCm38)	missense	possibly damaging	0.73
R5970:Dsp	UTSW	13	38,195,702 (GRCm38)	missense	possibly damaging	0.93
R6054:Dsp	UTSW	13	38,167,609 (GRCm38)	missense	probably benign	0.00
R6113:Dsp	UTSW	13	38,192,047 (GRCm38)	missense	probably damaging	1.00
R6139:Dsp	UTSW	13	38,192,406 (GRCm38)	missense	probably damaging	0.97
R6328:Dsp	UTSW	13	38,197,006 (GRCm38)	nonsense	probably null
R6527:Dsp	UTSW	13	38,195,873 (GRCm38)	missense	probably damaging	1.00
R6573:Dsp	UTSW	13	38,196,862 (GRCm38)	missense	probably damaging	1.00
R6628:Dsp	UTSW	13	38,167,622 (GRCm38)	missense	possibly damaging	0.73
R6738:Dsp	UTSW	13	38,192,210 (GRCm38)	missense	possibly damaging	0.87
R6898:Dsp	UTSW	13	38,192,217 (GRCm38)	missense	possibly damaging	0.59
R6919:Dsp	UTSW	13	38,167,655 (GRCm38)	missense	possibly damaging	0.84
R6951:Dsp	UTSW	13	38,167,646 (GRCm38)	missense	possibly damaging	0.95
R7017:Dsp	UTSW	13	38,186,707 (GRCm38)	missense	probably benign	0.02
R7022:Dsp	UTSW	13	38,191,740 (GRCm38)	missense	probably benign	0.06
R7135:Dsp	UTSW	13	38,179,073 (GRCm38)	missense	probably damaging	1.00
R7192:Dsp	UTSW	13	38,195,593 (GRCm38)	missense	probably benign	0.09
R7211:Dsp	UTSW	13	38,188,535 (GRCm38)	critical splice donor site	probably null
R7251:Dsp	UTSW	13	38,193,548 (GRCm38)	missense	probably benign	0.02
R7326:Dsp	UTSW	13	38,192,883 (GRCm38)	missense	probably benign	0.01
R7369:Dsp	UTSW	13	38,197,525 (GRCm38)	missense	possibly damaging	0.82
R7376:Dsp	UTSW	13	38,172,843 (GRCm38)	missense	probably damaging	1.00
R7406:Dsp	UTSW	13	38,197,196 (GRCm38)	missense	possibly damaging	0.63
R7439:Dsp	UTSW	13	38,195,449 (GRCm38)	missense	probably benign	0.00
R7439:Dsp	UTSW	13	38,176,502 (GRCm38)	critical splice donor site	probably null
R7441:Dsp	UTSW	13	38,195,449 (GRCm38)	missense	probably benign	0.00
R7477:Dsp	UTSW	13	38,172,863 (GRCm38)	missense	probably damaging	1.00
R7535:Dsp	UTSW	13	38,192,789 (GRCm38)	missense	probably benign	0.05
R7558:Dsp	UTSW	13	38,168,766 (GRCm38)	missense	probably benign	0.02
R7600:Dsp	UTSW	13	38,191,715 (GRCm38)	missense	probably damaging	1.00
R7616:Dsp	UTSW	13	38,191,482 (GRCm38)	missense	probably damaging	0.98
R7702:Dsp	UTSW	13	38,175,207 (GRCm38)	missense	possibly damaging	0.83
R7738:Dsp	UTSW	13	38,185,175 (GRCm38)	missense	probably damaging	0.97
R7815:Dsp	UTSW	13	38,191,470 (GRCm38)	missense	probably benign	0.31
R7882:Dsp	UTSW	13	38,184,018 (GRCm38)	missense	possibly damaging	0.76
R7917:Dsp	UTSW	13	38,167,639 (GRCm38)	nonsense	probably null
R7971:Dsp	UTSW	13	38,192,523 (GRCm38)	missense	probably damaging	0.97
R8104:Dsp	UTSW	13	38,168,624 (GRCm38)	missense	probably benign	0.03
R8176:Dsp	UTSW	13	38,192,810 (GRCm38)	missense	possibly damaging	0.56
R8303:Dsp	UTSW	13	38,197,343 (GRCm38)	missense	probably benign
R8323:Dsp	UTSW	13	38,172,830 (GRCm38)	missense	possibly damaging	0.80
R8326:Dsp	UTSW	13	38,191,635 (GRCm38)	missense	probably damaging	1.00
R8358:Dsp	UTSW	13	38,192,481 (GRCm38)	missense	possibly damaging	0.92
R8410:Dsp	UTSW	13	38,196,815 (GRCm38)	missense	possibly damaging	0.94
R8552:Dsp	UTSW	13	38,185,141 (GRCm38)	missense	probably damaging	0.98
R8713:Dsp	UTSW	13	38,168,725 (GRCm38)	missense	probably damaging	0.99
R8801:Dsp	UTSW	13	38,197,526 (GRCm38)	missense	possibly damaging	0.81
R8900:Dsp	UTSW	13	38,181,179 (GRCm38)	missense	probably damaging	0.99
R8901:Dsp	UTSW	13	38,181,179 (GRCm38)	missense	probably damaging	0.99
R8968:Dsp	UTSW	13	38,151,620 (GRCm38)	missense	possibly damaging	0.83
R9014:Dsp	UTSW	13	38,192,724 (GRCm38)	missense	possibly damaging	0.83
R9021:Dsp	UTSW	13	38,196,832 (GRCm38)	missense	possibly damaging	0.61
R9030:Dsp	UTSW	13	38,168,697 (GRCm38)	missense	probably damaging	1.00
R9124:Dsp	UTSW	13	38,193,300 (GRCm38)	missense	probably benign	0.42
R9129:Dsp	UTSW	13	38,193,150 (GRCm38)	missense	probably benign	0.09
R9143:Dsp	UTSW	13	38,193,361 (GRCm38)	missense	probably benign	0.05
R9450:Dsp	UTSW	13	38,192,403 (GRCm38)	missense	probably damaging	1.00
R9488:Dsp	UTSW	13	38,193,242 (GRCm38)	missense	probably benign	0.04
R9514:Dsp	UTSW	13	38,187,805 (GRCm38)	missense	probably benign	0.02
R9789:Dsp	UTSW	13	38,183,961 (GRCm38)	missense	probably benign	0.03
R9792:Dsp	UTSW	13	38,195,518 (GRCm38)	missense	possibly damaging	0.87
X0023:Dsp	UTSW	13	38,197,684 (GRCm38)	missense	probably benign	0.00
X0024:Dsp	UTSW	13	38,193,255 (GRCm38)	missense	probably benign	0.04
X0027:Dsp	UTSW	13	38,186,646 (GRCm38)	missense	possibly damaging	0.68
X0067:Dsp	UTSW	13	38,182,312 (GRCm38)	missense	possibly damaging	0.85
Z1176:Dsp	UTSW	13	38,197,190 (GRCm38)	missense	possibly damaging	0.81
Z1177:Dsp	UTSW	13	38,192,854 (GRCm38)	frame shift	probably null
Z1177:Dsp	UTSW	13	38,151,689 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGATCACCCGGCTGACCTATGAG -3'
(R):5'- TTCTGCATGGTTTCCGAGCCAC -3'

Sequencing Primer
(F):5'- CTGGAGTCTGAGAAAGCCATC -3'
(R):5'- AGCCACAGGCTTTCTGCTG -3'

Posted On

2014-03-14