Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Dsp'

59063

Institutional Source

Beutler Lab

Gene Symbol

Dsp

Ensembl Gene

ENSMUSG00000054889

Gene Name

desmoplakin

Synonyms

5730453H04Rik, DP, 2300002E22Rik

MMRRC Submission

038475-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0234 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

38151294-38198577 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38187893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 940 (N940S)

Ref Sequence

ENSEMBL: ENSMUSP00000117252 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000124830
AA Change: N940S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: N940S

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
AA Change: N940S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889
AA Change: N940S

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	A	7: 131,194,303 (GRCm38)		probably null	Het
A3galt2	A	G	4: 128,767,148 (GRCm38)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,209,817 (GRCm38)	H983L	probably damaging	Het
Adal	T	A	2: 121,148,317 (GRCm38)	D139E	probably benign	Het
Adam6b	G	A	12: 113,490,610 (GRCm38)	R349H	probably damaging	Het
Agap1	A	G	1: 89,671,212 (GRCm38)	K331E	probably damaging	Het
Alyref	T	C	11: 120,598,307 (GRCm38)	D11G	probably damaging	Het
B3gat1	A	G	9: 26,756,081 (GRCm38)	E203G	probably damaging	Het
Bsn	T	C	9: 108,116,396 (GRCm38)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,638,022 (GRCm38)		probably null	Het
Ccni	A	G	5: 93,202,327 (GRCm38)	V31A	probably benign	Het
Cfap54	A	T	10: 92,899,160 (GRCm38)	L2343*	probably null	Het
Clns1a	T	A	7: 97,714,032 (GRCm38)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,644,500 (GRCm38)	T259I	probably damaging	Het
D430042O09Rik	T	C	7: 125,795,385 (GRCm38)	V211A	probably benign	Het
Erbb2	T	C	11: 98,436,439 (GRCm38)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,862,087 (GRCm38)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,463,464 (GRCm38)	V330A	possibly damaging	Het
Fam71a	T	C	1: 191,162,908 (GRCm38)	S513G	probably benign	Het
Fbf1	A	C	11: 116,155,034 (GRCm38)	F245V	probably damaging	Het
Fut10	T	A	8: 31,236,197 (GRCm38)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,254,633 (GRCm38)	P144S	probably damaging	Het
Ghrhr	A	T	6: 55,379,186 (GRCm38)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm38)	C1864S	probably damaging	Het
Hist1h1c	T	C	13: 23,739,123 (GRCm38)	I92T	probably benign	Het
Hps1	T	C	19: 42,762,553 (GRCm38)	E336G	probably damaging	Het
Ibsp	GGAAGAAGAAGAAGAAGA	GGAAGAAGAAGAAGA	5: 104,310,069 (GRCm38)		probably benign	Het
Irgc1	C	A	7: 24,433,328 (GRCm38)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,828,280 (GRCm38)	R590*	probably null	Het
Lmln	T	C	16: 33,066,324 (GRCm38)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,365,617 (GRCm38)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,312,873 (GRCm38)	D119E	probably benign	Het
Mrc1	A	G	2: 14,279,894 (GRCm38)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,649,674 (GRCm38)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,187,240 (GRCm38)	D448E	probably benign	Het
Neil2	T	A	14: 63,183,526 (GRCm38)	I239F	probably damaging	Het
Npnt	A	G	3: 132,914,414 (GRCm38)	F123S	possibly damaging	Het
Olfr1164	T	A	2: 88,093,022 (GRCm38)	R305*	probably null	Het
Olfr117	T	A	17: 37,660,106 (GRCm38)	I76F	probably damaging	Het
Olfr1309	T	C	2: 111,983,300 (GRCm38)	Y258C	probably damaging	Het
Olfr1501	C	T	19: 13,838,538 (GRCm38)	V212M	possibly damaging	Het
Olfr683	T	C	7: 105,144,074 (GRCm38)	D73G	probably damaging	Het
Olfr686	C	A	7: 105,203,614 (GRCm38)	C243F	probably damaging	Het
Olfr933	A	C	9: 38,976,251 (GRCm38)		probably null	Het
Pcnx3	T	C	19: 5,672,618 (GRCm38)	T941A	probably benign	Het
Phldb3	G	A	7: 24,612,579 (GRCm38)	R106Q	probably benign	Het
Pitrm1	C	A	13: 6,575,079 (GRCm38)	Y864*	probably null	Het
Plcb4	T	C	2: 135,982,075 (GRCm38)	I844T	probably benign	Het
Plekhg5	T	C	4: 152,112,219 (GRCm38)	C695R	probably damaging	Het
Ppp1r3b	T	A	8: 35,384,501 (GRCm38)	F165I	probably damaging	Het
Prr5	T	A	15: 84,703,121 (GRCm38)	F357L	probably damaging	Het
Rasgrf1	A	T	9: 90,009,366 (GRCm38)	I1046F	probably damaging	Het
Rbm15b	T	C	9: 106,885,364 (GRCm38)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,955,901 (GRCm38)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,456,333 (GRCm38)	N343S	probably benign	Het
Rrp12	A	G	19: 41,871,760 (GRCm38)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,798,798 (GRCm38)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,615,468 (GRCm38)	V154A	probably damaging	Het
Slc13a5	C	G	11: 72,250,800 (GRCm38)	V405L	probably damaging	Het
Slc17a3	C	T	13: 23,855,858 (GRCm38)	S293F	probably damaging	Het
Slc22a23	G	A	13: 34,183,261 (GRCm38)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,926,791 (GRCm38)		probably benign	Het
Slc4a4	A	C	5: 89,156,336 (GRCm38)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 70,889,633 (GRCm38)	M258K	probably damaging	Het
Spry4	A	G	18: 38,590,089 (GRCm38)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,529,067 (GRCm38)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,448,886 (GRCm38)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,243,402 (GRCm38)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,450,322 (GRCm38)	N546K	probably benign	Het
Tnn	T	A	1: 160,088,466 (GRCm38)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,758,704 (GRCm38)	G62D	probably damaging	Het
Trf	T	C	9: 103,226,879 (GRCm38)		probably null	Het
Ubr5	T	C	15: 37,968,493 (GRCm38)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619 (GRCm38)	T56S	probably benign	Het
Wipf3	T	G	6: 54,496,501 (GRCm38)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,629,994 (GRCm38)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,894,107 (GRCm38)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,234,260 (GRCm38)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,438,755 (GRCm38)	V321E	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
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
R1445:Dsp	UTSW	13	38,191,931 (GRCm38)	missense	probably damaging	0.98
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'- TCCATAGATTGTGGGACCTGGAGAAAC -3'
(R):5'- GCGCAAAGTTCAGCGATTTTATGCAC -3'

Sequencing Primer
(F):5'- TGTGGGACCTGGAGAAACAAATC -3'
(R):5'- ctcaagaatctcctatctctgcc -3'

Posted On

2013-07-11