Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Dsp'

262041

Institutional Source

Beutler Lab

Gene Symbol

Dsp

Ensembl Gene

ENSMUSG00000054889

Gene Name

desmoplakin

Synonyms

DP, 2300002E22Rik, 5730453H04Rik, rul

MMRRC Submission

038900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0718 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38335270-38382553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38380740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 2495 (Y2495F)

Ref Sequence

ENSEMBL: ENSMUSP00000115062 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124830
AA Change: Y2495F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115062
Gene: ENSMUSG00000054889
AA Change: Y2495F

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

possibly damaging
Transcript: ENSMUST00000127906
AA Change: Y1896F

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117252
Gene: ENSMUSG00000054889
AA Change: Y1896F

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

0.0630

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,586,918 (GRCm39)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 179,816,940 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,598,803 (GRCm39)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,377,015 (GRCm39)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,563,290 (GRCm39)	E87G	possibly damaging	Het
Armc5	C	T	7: 127,839,242 (GRCm39)		probably benign	Het
Asic2	C	G	11: 80,862,282 (GRCm39)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,351 (GRCm39)		probably null	Het
Brip1	A	G	11: 86,034,131 (GRCm39)	L530P	possibly damaging	Het
Bsn	G	T	9: 107,988,559 (GRCm39)		probably benign	Het
Btnl4	T	A	17: 34,688,608 (GRCm39)	H390L	probably benign	Het
Ccdc70	A	C	8: 22,463,324 (GRCm39)	K38T	probably damaging	Het
Ccni	G	A	5: 93,350,175 (GRCm39)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm39)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,386,181 (GRCm39)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,671,924 (GRCm39)	M328K	probably damaging	Het
Cmah	T	G	13: 24,601,193 (GRCm39)		probably null	Het
Cog6	T	C	3: 52,918,050 (GRCm39)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,389,433 (GRCm39)	S130F	probably benign	Het
Dgki	A	G	6: 36,989,831 (GRCm39)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,464,211 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,012,276 (GRCm39)	I3679T	possibly damaging	Het
Exosc4	C	T	15: 76,213,689 (GRCm39)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,452,577 (GRCm39)		probably benign	Het
Flvcr1	A	T	1: 190,757,779 (GRCm39)	L171Q	probably damaging	Het
Fsd1	G	T	17: 56,303,445 (GRCm39)		probably null	Het
Gm7732	A	G	17: 21,350,106 (GRCm39)		noncoding transcript	Het
H2-K2	A	C	17: 34,194,597 (GRCm39)		noncoding transcript	Het
Hgf	A	G	5: 16,798,857 (GRCm39)	N295S	probably damaging	Het
Ift88	T	A	14: 57,754,870 (GRCm39)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,234,657 (GRCm39)		probably null	Het
Immt	T	A	6: 71,840,156 (GRCm39)	V311E	probably damaging	Het
Ipo11	T	A	13: 107,056,119 (GRCm39)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,796,158 (GRCm39)	K260E	probably damaging	Het
Jchain	T	G	5: 88,674,061 (GRCm39)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,054,725 (GRCm39)		probably null	Het
Kif13b	T	C	14: 64,989,111 (GRCm39)		probably benign	Het
Klhdc7b	T	C	15: 89,272,372 (GRCm39)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 104,024,159 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,341,292 (GRCm39)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,796,776 (GRCm39)		probably benign	Het
Ltf	C	A	9: 110,869,447 (GRCm39)	Q41K	probably benign	Het
Med4	T	A	14: 73,754,097 (GRCm39)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,294,471 (GRCm39)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,567,185 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,210,710 (GRCm39)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 47,848,301 (GRCm39)	H209L	probably benign	Het
Nkapl	A	T	13: 21,652,610 (GRCm39)	M1K	probably null	Het
Nmur2	T	A	11: 55,920,324 (GRCm39)		probably benign	Het
Nsun2	T	A	13: 69,691,816 (GRCm39)		probably benign	Het
Or10ag60	A	G	2: 87,438,271 (GRCm39)	I180V	probably benign	Het
Or8k35	G	A	2: 86,424,425 (GRCm39)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,882,146 (GRCm39)		probably benign	Het
Pcdh8	A	G	14: 80,008,131 (GRCm39)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,727,756 (GRCm39)		probably benign	Het
Pla2r1	C	A	2: 60,309,874 (GRCm39)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,943,599 (GRCm39)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,266,179 (GRCm39)	E529G	probably benign	Het
Prdm15	A	G	16: 97,613,833 (GRCm39)	F496L	possibly damaging	Het
Prlhr	G	T	19: 60,456,497 (GRCm39)	S23*	probably null	Het
Prlhr	A	T	19: 60,456,443 (GRCm39)	V41D	probably benign	Het
Prpf4	C	T	4: 62,332,777 (GRCm39)		probably benign	Het
Psg26	C	T	7: 18,209,160 (GRCm39)	R416H	probably benign	Het
Psg26	T	C	7: 18,212,212 (GRCm39)	H381R	probably benign	Het
Ralgds	T	G	2: 28,439,128 (GRCm39)	M717R	probably benign	Het
Rbms1	T	C	2: 60,672,756 (GRCm39)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,209,227 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,673,699 (GRCm39)	N568S	probably benign	Het
Rptor	A	G	11: 119,763,202 (GRCm39)	M929V	probably benign	Het
Rspo1	T	A	4: 124,900,942 (GRCm39)	C97S	possibly damaging	Het
Scin	C	T	12: 40,129,606 (GRCm39)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,377,456 (GRCm39)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,058,544 (GRCm39)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,712,839 (GRCm39)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,412,237 (GRCm39)		probably benign	Het
Sp9	G	T	2: 73,104,171 (GRCm39)	A242S	possibly damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 190,785,046 (GRCm39)		probably benign	Het
Tex14	G	A	11: 87,390,439 (GRCm39)	V379I	probably benign	Het
Tmed6	T	C	8: 107,788,356 (GRCm39)	N197S	probably damaging	Het
Ttbk2	A	T	2: 120,575,641 (GRCm39)	I1043N	probably benign	Het
Ttbk2	G	A	2: 120,579,056 (GRCm39)	L689F	probably benign	Het
Ttn	A	G	2: 76,641,040 (GRCm39)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,540,616 (GRCm39)	S441*	probably null	Het
Ush2a	G	A	1: 188,530,027 (GRCm39)	C3272Y	probably damaging	Het
Vac14	T	A	8: 111,359,109 (GRCm39)	I95K	probably damaging	Het
Vangl2	G	A	1: 171,833,784 (GRCm39)	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,336,135 (GRCm39)	V153D	probably damaging	Het
Zfhx3	T	A	8: 109,682,282 (GRCm39)	D3240E	unknown	Het
Zfp945	A	G	17: 23,070,004 (GRCm39)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,312,576 (GRCm39)		probably benign	Het
Zyg11b	A	T	4: 108,099,273 (GRCm39)	I606N	possibly damaging	Het

Other mutations in Dsp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Dsp	APN	13	38,381,822 (GRCm39)	missense	probably damaging	0.99
IGL01337:Dsp	APN	13	38,376,663 (GRCm39)	missense	probably benign	0.44
IGL01371:Dsp	APN	13	38,377,593 (GRCm39)	missense	probably benign	0.13
IGL01473:Dsp	APN	13	38,351,547 (GRCm39)	missense	probably damaging	0.99
IGL01660:Dsp	APN	13	38,360,471 (GRCm39)	missense	possibly damaging	0.90
IGL01723:Dsp	APN	13	38,363,060 (GRCm39)	missense	probably damaging	1.00
IGL01999:Dsp	APN	13	38,365,162 (GRCm39)	missense	probably damaging	0.99
IGL02313:Dsp	APN	13	38,380,499 (GRCm39)	nonsense	probably null
IGL02833:Dsp	APN	13	38,376,897 (GRCm39)	missense	possibly damaging	0.56
IGL03050:Dsp	APN	13	38,372,421 (GRCm39)	splice site	probably benign
IGL03353:Dsp	APN	13	38,370,671 (GRCm39)	missense	probably damaging	1.00
R0052:Dsp	UTSW	13	38,381,340 (GRCm39)	missense	possibly damaging	0.93
R0052:Dsp	UTSW	13	38,381,340 (GRCm39)	missense	possibly damaging	0.93
R0078:Dsp	UTSW	13	38,379,993 (GRCm39)	missense	probably benign	0.22
R0230:Dsp	UTSW	13	38,381,681 (GRCm39)	missense	probably benign	0.03
R0234:Dsp	UTSW	13	38,371,869 (GRCm39)	missense	probably benign	0.13
R0234:Dsp	UTSW	13	38,371,869 (GRCm39)	missense	probably benign	0.13
R0285:Dsp	UTSW	13	38,356,770 (GRCm39)	missense	probably benign
R0326:Dsp	UTSW	13	38,376,846 (GRCm39)	nonsense	probably null
R0332:Dsp	UTSW	13	38,366,204 (GRCm39)	nonsense	probably null
R0471:Dsp	UTSW	13	38,377,326 (GRCm39)	nonsense	probably null
R0567:Dsp	UTSW	13	38,376,414 (GRCm39)	missense	probably benign	0.01
R0611:Dsp	UTSW	13	38,371,717 (GRCm39)	missense	probably damaging	1.00
R0926:Dsp	UTSW	13	38,367,194 (GRCm39)	missense	probably damaging	0.97
R1078:Dsp	UTSW	13	38,367,082 (GRCm39)	splice site	probably benign
R1183:Dsp	UTSW	13	38,375,716 (GRCm39)	nonsense	probably null
R1188:Dsp	UTSW	13	38,378,939 (GRCm39)	missense	probably damaging	1.00
R1419:Dsp	UTSW	13	38,370,671 (GRCm39)	missense	probably damaging	1.00
R1445:Dsp	UTSW	13	38,375,907 (GRCm39)	missense	probably damaging	0.98
R1467:Dsp	UTSW	13	38,376,688 (GRCm39)	missense	probably benign	0.00
R1467:Dsp	UTSW	13	38,376,688 (GRCm39)	missense	probably benign	0.00
R1478:Dsp	UTSW	13	38,365,114 (GRCm39)	missense	probably damaging	1.00
R1568:Dsp	UTSW	13	38,359,123 (GRCm39)	missense	probably damaging	1.00
R1572:Dsp	UTSW	13	38,379,714 (GRCm39)	missense	probably damaging	1.00
R1676:Dsp	UTSW	13	38,377,350 (GRCm39)	nonsense	probably null
R1736:Dsp	UTSW	13	38,376,966 (GRCm39)	missense	probably benign	0.01
R1776:Dsp	UTSW	13	38,380,593 (GRCm39)	missense	probably damaging	0.99
R1829:Dsp	UTSW	13	38,377,171 (GRCm39)	missense	probably damaging	1.00
R1878:Dsp	UTSW	13	38,348,831 (GRCm39)	missense	possibly damaging	0.53
R2013:Dsp	UTSW	13	38,375,434 (GRCm39)	missense	probably damaging	1.00
R2161:Dsp	UTSW	13	38,380,427 (GRCm39)	missense	probably damaging	1.00
R2187:Dsp	UTSW	13	38,360,383 (GRCm39)	missense	probably damaging	1.00
R2295:Dsp	UTSW	13	38,381,022 (GRCm39)	missense	probably benign	0.28
R2495:Dsp	UTSW	13	38,377,453 (GRCm39)	missense	possibly damaging	0.91
R2566:Dsp	UTSW	13	38,380,380 (GRCm39)	missense	probably damaging	1.00
R2888:Dsp	UTSW	13	38,376,224 (GRCm39)	missense	possibly damaging	0.92
R3012:Dsp	UTSW	13	38,377,318 (GRCm39)	missense	possibly damaging	0.61
R3614:Dsp	UTSW	13	38,361,175 (GRCm39)	missense	probably damaging	0.98
R3725:Dsp	UTSW	13	38,381,594 (GRCm39)	missense	probably benign	0.00
R3725:Dsp	UTSW	13	38,378,665 (GRCm39)	splice site	probably null
R3797:Dsp	UTSW	13	38,361,260 (GRCm39)	critical splice donor site	probably null
R3841:Dsp	UTSW	13	38,381,681 (GRCm39)	missense	probably benign
R4030:Dsp	UTSW	13	38,375,404 (GRCm39)	missense	possibly damaging	0.84
R4124:Dsp	UTSW	13	38,370,689 (GRCm39)	missense	probably damaging	1.00
R4279:Dsp	UTSW	13	38,369,207 (GRCm39)	missense	probably damaging	1.00
R4334:Dsp	UTSW	13	38,380,640 (GRCm39)	missense	possibly damaging	0.46
R4419:Dsp	UTSW	13	38,379,108 (GRCm39)	missense	probably damaging	1.00
R4615:Dsp	UTSW	13	38,375,608 (GRCm39)	missense	probably damaging	0.98
R4627:Dsp	UTSW	13	38,352,617 (GRCm39)	missense	probably benign	0.01
R4639:Dsp	UTSW	13	38,380,760 (GRCm39)	missense	probably damaging	1.00
R4687:Dsp	UTSW	13	38,375,595 (GRCm39)	missense	probably damaging	1.00
R4735:Dsp	UTSW	13	38,380,016 (GRCm39)	missense	probably damaging	0.99
R4746:Dsp	UTSW	13	38,379,080 (GRCm39)	missense	possibly damaging	0.51
R4772:Dsp	UTSW	13	38,351,504 (GRCm39)	nonsense	probably null
R4830:Dsp	UTSW	13	38,376,840 (GRCm39)	missense	probably benign
R4850:Dsp	UTSW	13	38,376,445 (GRCm39)	missense	probably damaging	1.00
R4959:Dsp	UTSW	13	38,375,686 (GRCm39)	missense	probably benign	0.41
R4963:Dsp	UTSW	13	38,381,846 (GRCm39)	missense	probably damaging	0.99
R4969:Dsp	UTSW	13	38,376,886 (GRCm39)	missense	probably benign	0.00
R4978:Dsp	UTSW	13	38,366,210 (GRCm39)	missense	probably damaging	1.00
R4989:Dsp	UTSW	13	38,381,678 (GRCm39)	missense	possibly damaging	0.93
R5068:Dsp	UTSW	13	38,381,099 (GRCm39)	missense	possibly damaging	0.78
R5069:Dsp	UTSW	13	38,381,099 (GRCm39)	missense	possibly damaging	0.78
R5070:Dsp	UTSW	13	38,381,099 (GRCm39)	missense	possibly damaging	0.78
R5133:Dsp	UTSW	13	38,381,678 (GRCm39)	missense	possibly damaging	0.93
R5138:Dsp	UTSW	13	38,379,821 (GRCm39)	missense	possibly damaging	0.50
R5138:Dsp	UTSW	13	38,367,274 (GRCm39)	missense	probably benign	0.37
R5153:Dsp	UTSW	13	38,366,282 (GRCm39)	missense	probably damaging	1.00
R5199:Dsp	UTSW	13	38,376,878 (GRCm39)	nonsense	probably null
R5226:Dsp	UTSW	13	38,370,746 (GRCm39)	missense	probably damaging	0.99
R5265:Dsp	UTSW	13	38,379,159 (GRCm39)	missense	possibly damaging	0.95
R5371:Dsp	UTSW	13	38,378,865 (GRCm39)	missense	probably damaging	0.97
R5484:Dsp	UTSW	13	38,368,014 (GRCm39)	missense	possibly damaging	0.48
R5534:Dsp	UTSW	13	38,379,818 (GRCm39)	missense	probably benign	0.01
R5569:Dsp	UTSW	13	38,376,628 (GRCm39)	missense	probably benign	0.01
R5854:Dsp	UTSW	13	38,351,477 (GRCm39)	splice site	probably null
R5910:Dsp	UTSW	13	38,376,445 (GRCm39)	missense	possibly damaging	0.95
R5929:Dsp	UTSW	13	38,379,410 (GRCm39)	missense	possibly damaging	0.92
R5940:Dsp	UTSW	13	38,380,002 (GRCm39)	missense	possibly damaging	0.70
R5948:Dsp	UTSW	13	38,379,377 (GRCm39)	missense	possibly damaging	0.95
R5955:Dsp	UTSW	13	38,378,934 (GRCm39)	missense	possibly damaging	0.73
R5970:Dsp	UTSW	13	38,379,678 (GRCm39)	missense	possibly damaging	0.93
R6054:Dsp	UTSW	13	38,351,585 (GRCm39)	missense	probably benign	0.00
R6113:Dsp	UTSW	13	38,376,023 (GRCm39)	missense	probably damaging	1.00
R6139:Dsp	UTSW	13	38,376,382 (GRCm39)	missense	probably damaging	0.97
R6328:Dsp	UTSW	13	38,380,982 (GRCm39)	nonsense	probably null
R6527:Dsp	UTSW	13	38,379,849 (GRCm39)	missense	probably damaging	1.00
R6573:Dsp	UTSW	13	38,380,838 (GRCm39)	missense	probably damaging	1.00
R6628:Dsp	UTSW	13	38,351,598 (GRCm39)	missense	possibly damaging	0.73
R6738:Dsp	UTSW	13	38,376,186 (GRCm39)	missense	possibly damaging	0.87
R6898:Dsp	UTSW	13	38,376,193 (GRCm39)	missense	possibly damaging	0.59
R6919:Dsp	UTSW	13	38,351,631 (GRCm39)	missense	possibly damaging	0.84
R6951:Dsp	UTSW	13	38,351,622 (GRCm39)	missense	possibly damaging	0.95
R7017:Dsp	UTSW	13	38,370,683 (GRCm39)	missense	probably benign	0.02
R7022:Dsp	UTSW	13	38,375,716 (GRCm39)	missense	probably benign	0.06
R7135:Dsp	UTSW	13	38,363,049 (GRCm39)	missense	probably damaging	1.00
R7192:Dsp	UTSW	13	38,379,569 (GRCm39)	missense	probably benign	0.09
R7211:Dsp	UTSW	13	38,372,511 (GRCm39)	critical splice donor site	probably null
R7251:Dsp	UTSW	13	38,377,524 (GRCm39)	missense	probably benign	0.02
R7326:Dsp	UTSW	13	38,376,859 (GRCm39)	missense	probably benign	0.01
R7369:Dsp	UTSW	13	38,381,501 (GRCm39)	missense	possibly damaging	0.82
R7376:Dsp	UTSW	13	38,356,819 (GRCm39)	missense	probably damaging	1.00
R7406:Dsp	UTSW	13	38,381,172 (GRCm39)	missense	possibly damaging	0.63
R7439:Dsp	UTSW	13	38,379,425 (GRCm39)	missense	probably benign	0.00
R7439:Dsp	UTSW	13	38,360,478 (GRCm39)	critical splice donor site	probably null
R7441:Dsp	UTSW	13	38,379,425 (GRCm39)	missense	probably benign	0.00
R7477:Dsp	UTSW	13	38,356,839 (GRCm39)	missense	probably damaging	1.00
R7535:Dsp	UTSW	13	38,376,765 (GRCm39)	missense	probably benign	0.05
R7558:Dsp	UTSW	13	38,352,742 (GRCm39)	missense	probably benign	0.02
R7600:Dsp	UTSW	13	38,375,691 (GRCm39)	missense	probably damaging	1.00
R7616:Dsp	UTSW	13	38,375,458 (GRCm39)	missense	probably damaging	0.98
R7702:Dsp	UTSW	13	38,359,183 (GRCm39)	missense	possibly damaging	0.83
R7738:Dsp	UTSW	13	38,369,151 (GRCm39)	missense	probably damaging	0.97
R7815:Dsp	UTSW	13	38,375,446 (GRCm39)	missense	probably benign	0.31
R7882:Dsp	UTSW	13	38,367,994 (GRCm39)	missense	possibly damaging	0.76
R7917:Dsp	UTSW	13	38,351,615 (GRCm39)	nonsense	probably null
R7971:Dsp	UTSW	13	38,376,499 (GRCm39)	missense	probably damaging	0.97
R8104:Dsp	UTSW	13	38,352,600 (GRCm39)	missense	probably benign	0.03
R8176:Dsp	UTSW	13	38,376,786 (GRCm39)	missense	possibly damaging	0.56
R8303:Dsp	UTSW	13	38,381,319 (GRCm39)	missense	probably benign
R8323:Dsp	UTSW	13	38,356,806 (GRCm39)	missense	possibly damaging	0.80
R8326:Dsp	UTSW	13	38,375,611 (GRCm39)	missense	probably damaging	1.00
R8358:Dsp	UTSW	13	38,376,457 (GRCm39)	missense	possibly damaging	0.92
R8410:Dsp	UTSW	13	38,380,791 (GRCm39)	missense	possibly damaging	0.94
R8552:Dsp	UTSW	13	38,369,117 (GRCm39)	missense	probably damaging	0.98
R8713:Dsp	UTSW	13	38,352,701 (GRCm39)	missense	probably damaging	0.99
R8801:Dsp	UTSW	13	38,381,502 (GRCm39)	missense	possibly damaging	0.81
R8900:Dsp	UTSW	13	38,365,155 (GRCm39)	missense	probably damaging	0.99
R8901:Dsp	UTSW	13	38,365,155 (GRCm39)	missense	probably damaging	0.99
R8968:Dsp	UTSW	13	38,335,596 (GRCm39)	missense	possibly damaging	0.83
R9014:Dsp	UTSW	13	38,376,700 (GRCm39)	missense	possibly damaging	0.83
R9021:Dsp	UTSW	13	38,380,808 (GRCm39)	missense	possibly damaging	0.61
R9030:Dsp	UTSW	13	38,352,673 (GRCm39)	missense	probably damaging	1.00
R9124:Dsp	UTSW	13	38,377,276 (GRCm39)	missense	probably benign	0.42
R9129:Dsp	UTSW	13	38,377,126 (GRCm39)	missense	probably benign	0.09
R9143:Dsp	UTSW	13	38,377,337 (GRCm39)	missense	probably benign	0.05
R9450:Dsp	UTSW	13	38,376,379 (GRCm39)	missense	probably damaging	1.00
R9488:Dsp	UTSW	13	38,377,218 (GRCm39)	missense	probably benign	0.04
R9514:Dsp	UTSW	13	38,371,781 (GRCm39)	missense	probably benign	0.02
R9789:Dsp	UTSW	13	38,367,937 (GRCm39)	missense	probably benign	0.03
R9792:Dsp	UTSW	13	38,379,494 (GRCm39)	missense	possibly damaging	0.87
X0023:Dsp	UTSW	13	38,381,660 (GRCm39)	missense	probably benign	0.00
X0024:Dsp	UTSW	13	38,377,231 (GRCm39)	missense	probably benign	0.04
X0027:Dsp	UTSW	13	38,370,622 (GRCm39)	missense	possibly damaging	0.68
X0067:Dsp	UTSW	13	38,366,288 (GRCm39)	missense	possibly damaging	0.85
Z1176:Dsp	UTSW	13	38,381,166 (GRCm39)	missense	possibly damaging	0.81
Z1177:Dsp	UTSW	13	38,376,830 (GRCm39)	frame shift	probably null
Z1177:Dsp	UTSW	13	38,335,665 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCTTAGCGAAATCCTCTCAGACCC -3'
(R):5'- AACGAGGCCCTTGTCAATAGCATC -3'

Sequencing Primer
(F):5'- GGCTTTTTCGATCCAAACACAG -3'
(R):5'- GCCCTTGTCAATAGCATCTTGAATG -3'

Posted On

2015-02-04