Mutagenetix > Incidental Mutation

Incidental Mutation 'R1750:Nisch'

193451

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, edsn, 3202002H23Rik

MMRRC Submission

039782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1750 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

30892885-30928783 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 30896839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000167449] [ENSMUST00000168206] [ENSMUST00000169628] [ENSMUST00000169906]

AlphaFold

Q80TM9

Predicted Effect

unknown
Transcript: ENSMUST00000022469
AA Change: E1033K

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: E1033K

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
PDB:4PQ8\|A	287	420	9e-8	PDB
SCOP:d1h6ta2	291	421	6e-29	SMART
Blast:LRR	311	332	5e-6	BLAST
Blast:LRR	333	355	6e-6	BLAST
Blast:LRR	378	403	5e-7	BLAST
Blast:LRR	403	429	6e-7	BLAST
low complexity region	489	501	N/A	INTRINSIC
low complexity region	517	534	N/A	INTRINSIC
coiled coil region	625	650	N/A	INTRINSIC
low complexity region	662	695	N/A	INTRINSIC
low complexity region	1038	1069	N/A	INTRINSIC
low complexity region	1081	1193	N/A	INTRINSIC
low complexity region	1491	1509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163552

SMART Domains

Protein: ENSMUSP00000131689
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	96	127	N/A	INTRINSIC
low complexity region	139	242	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164956

Predicted Effect

probably benign
Transcript: ENSMUST00000167449

Predicted Effect

unknown
Transcript: ENSMUST00000168206
AA Change: E788K

SMART Domains

Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: E788K

Domain	Start	End	E-Value	Type
Pfam:LRR_8	44	101	3.9e-9	PFAM
Pfam:LRR_1	45	66	2.6e-2	PFAM
Pfam:LRR_6	88	109	1.1e-2	PFAM
Pfam:LRR_4	89	132	6.5e-8	PFAM
Pfam:LRR_1	90	109	6.9e-2	PFAM
Blast:LRR	133	158	4e-7	BLAST
Blast:LRR	158	184	6e-7	BLAST
low complexity region	244	256	N/A	INTRINSIC
low complexity region	272	289	N/A	INTRINSIC
coiled coil region	380	405	N/A	INTRINSIC
low complexity region	417	450	N/A	INTRINSIC
low complexity region	793	824	N/A	INTRINSIC
low complexity region	836	948	N/A	INTRINSIC
low complexity region	1246	1264	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168451

SMART Domains

Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
Pfam:PX	4	53	5.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169628

SMART Domains

Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	231	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169906

SMART Domains

Protein: ENSMUSP00000129268
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
coiled coil region	113	138	N/A	INTRINSIC
low complexity region	150	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170253

SMART Domains

Protein: ENSMUSP00000129547
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
SCOP:d1dcea3	2	86	3e-11	SMART
Blast:LRR	13	34	1e-5	BLAST
Blast:LRR	35	60	1e-7	BLAST
Blast:LRR	60	86	2e-8	BLAST

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for either a knock-out or hypomorphic allele exhibit hearing loss associated with increased susceptibility to otitis media. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 130,747,859 (GRCm39)	N44K	probably benign	Het
Acd	C	A	8: 106,425,524 (GRCm39)	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042 (GRCm39)	T23I	probably benign	Het
Adam26a	T	G	8: 44,023,226 (GRCm39)	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,413,676 (GRCm39)	V589M	probably benign	Het
Agbl2	T	A	2: 90,646,720 (GRCm39)		probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Asap2	T	C	12: 21,253,999 (GRCm39)	L170P	probably damaging	Het
Btg2	T	C	1: 134,006,769 (GRCm39)	D8G	probably benign	Het
Cacna1g	A	T	11: 94,334,118 (GRCm39)	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,469,286 (GRCm39)	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,401,843 (GRCm39)	D766V	probably damaging	Het
Carns1	A	G	19: 4,223,156 (GRCm39)	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,713,137 (GRCm39)		probably null	Het
Chrna3	T	C	9: 54,923,341 (GRCm39)	S156G	probably damaging	Het
Cmya5	A	T	13: 93,232,171 (GRCm39)	N972K	probably benign	Het
Cpne7	C	A	8: 123,861,263 (GRCm39)	P541T	probably damaging	Het
Cracd	A	G	5: 77,005,522 (GRCm39)	I628V	unknown	Het
Csmd1	A	T	8: 15,967,303 (GRCm39)	L3187I	probably damaging	Het
Dbt	A	G	3: 116,339,943 (GRCm39)	I404V	probably benign	Het
Dgki	A	T	6: 36,893,369 (GRCm39)	I819K	probably damaging	Het
Dip2b	T	A	15: 100,076,347 (GRCm39)	S782T	probably benign	Het
Dlc1	A	T	8: 37,325,244 (GRCm39)		probably null	Het
Dnajc13	A	T	9: 104,098,676 (GRCm39)	V459E	probably damaging	Het
Enam	A	G	5: 88,651,086 (GRCm39)	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Extl1	A	G	4: 134,089,999 (GRCm39)	S370P	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,479,141 (GRCm39)	I370N	probably benign	Het
Fcgbp	T	A	7: 27,792,868 (GRCm39)	Y957*	probably null	Het
Gkap1	C	A	13: 58,384,857 (GRCm39)	E77*	probably null	Het
Gkn1	A	T	6: 87,326,105 (GRCm39)	N28K	unknown	Het
Gls2	A	G	10: 128,037,194 (GRCm39)	E245G	probably damaging	Het
Glyat	G	A	19: 12,623,679 (GRCm39)	V32I	probably benign	Het
Gm2431	A	T	7: 141,811,762 (GRCm39)	C47*	probably null	Het
Gm5431	T	C	11: 48,785,658 (GRCm39)	D239G	probably benign	Het
Ift70a1	C	T	2: 75,810,599 (GRCm39)	V495I	probably benign	Het
Inpp5d	T	C	1: 87,626,803 (GRCm39)	F540L	probably damaging	Het
Kcna1	A	C	6: 126,619,771 (GRCm39)	I183S	probably benign	Het
Kpna2	G	T	11: 106,882,271 (GRCm39)	L212I	probably damaging	Het
Krt36	C	G	11: 99,994,884 (GRCm39)	R229S	probably benign	Het
Krt78	G	A	15: 101,854,812 (GRCm39)	H1000Y	probably benign	Het
Krt90	A	G	15: 101,461,800 (GRCm39)		probably benign	Het
Ldlrad4	C	A	18: 68,239,758 (GRCm39)	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601 (GRCm38)	N2D	probably benign	Het
Madd	T	C	2: 90,998,236 (GRCm39)	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 25,133,433 (GRCm39)	G332S	probably null	Het
Mastl	A	T	2: 23,036,093 (GRCm39)	L141*	probably null	Het
Mdh1b	T	C	1: 63,758,681 (GRCm39)	N304D	probably benign	Het
Mfsd4b3-ps	G	T	10: 39,823,929 (GRCm39)	N110K	probably benign	Het
Mtus2	T	C	5: 148,214,443 (GRCm39)	S1035P	probably damaging	Het
Muc21	T	A	17: 35,931,940 (GRCm39)		probably benign	Het
Myh11	T	C	16: 14,033,654 (GRCm39)	E1080G	probably damaging	Het
Myh11	T	A	16: 14,018,622 (GRCm39)	D1908V	probably damaging	Het
Mypn	A	C	10: 62,971,976 (GRCm39)	M688R	probably benign	Het
Nat8l	G	T	5: 34,158,130 (GRCm39)	C180F	probably damaging	Het
Nip7	T	A	8: 107,784,018 (GRCm39)	L86Q	probably damaging	Het
Nop2	A	G	6: 125,114,601 (GRCm39)	I283V	probably benign	Het
Oas1h	T	A	5: 121,009,840 (GRCm39)		probably null	Het
Or10ag56	T	C	2: 87,139,196 (GRCm39)	V41A	probably benign	Het
Or2g25	A	C	17: 37,970,564 (GRCm39)	I220S	probably damaging	Het
Or4c101	C	A	2: 88,390,402 (GRCm39)	D185E	possibly damaging	Het
Or4c104	T	C	2: 88,586,117 (GRCm39)	R301G	probably benign	Het
Or56b1b	A	T	7: 108,164,564 (GRCm39)	L146*	probably null	Het
Or5w17	T	A	2: 87,583,530 (GRCm39)	D269V	probably damaging	Het
Or8b42	T	A	9: 38,341,986 (GRCm39)	M136K	probably damaging	Het
P4hb	A	G	11: 120,453,546 (GRCm39)	V373A	probably damaging	Het
Pappa2	C	A	1: 158,590,720 (GRCm39)	E1645*	probably null	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb17	C	T	18: 37,618,764 (GRCm39)	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,620,070 (GRCm39)	H620R	possibly damaging	Het
Pdcl3	T	A	1: 39,034,946 (GRCm39)	F168I	probably damaging	Het
Pde4a	T	A	9: 21,114,528 (GRCm39)	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,950 (GRCm39)	V940A	probably damaging	Het
Picalm	T	A	7: 89,840,390 (GRCm39)	S399T	possibly damaging	Het
Pigk	A	T	3: 152,450,101 (GRCm39)	I249F	probably damaging	Het
Plxnb1	C	A	9: 108,940,836 (GRCm39)	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,635,359 (GRCm39)	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,363,560 (GRCm39)	S114F	probably damaging	Het
Rassf4	A	G	6: 116,617,228 (GRCm39)	M259T	probably damaging	Het
Rbm47	T	C	5: 66,176,653 (GRCm39)	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,115,236 (GRCm39)	K21R	probably damaging	Het
Selenoi	T	C	5: 30,462,771 (GRCm39)	F212S	probably benign	Het
Shc3	T	G	13: 51,603,328 (GRCm39)	Y259S	probably damaging	Het
Skic3	T	A	13: 76,288,720 (GRCm39)	L951Q	possibly damaging	Het
Slc11a2	T	C	15: 100,299,168 (GRCm39)	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,028,717 (GRCm39)	M368K	probably damaging	Het
Slx4ip	T	A	2: 136,888,669 (GRCm39)	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,876,509 (GRCm39)	Q342L	probably benign	Het
Spink13	T	A	18: 62,740,820 (GRCm39)	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,551,958 (GRCm39)	I203N	possibly damaging	Het
Syne2	T	A	12: 76,099,579 (GRCm39)	C5335S	probably damaging	Het
Tagap	T	A	17: 8,148,742 (GRCm39)	D173E	probably benign	Het
Tekt3	A	C	11: 62,960,867 (GRCm39)	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,435,321 (GRCm39)	N42K	probably damaging	Het
Tnc	A	G	4: 63,890,972 (GRCm39)	W1728R	probably damaging	Het
Ttc33	C	T	15: 5,241,579 (GRCm39)	R135*	probably null	Het
Unc5c	A	G	3: 141,533,278 (GRCm39)	D842G	possibly damaging	Het
Usp43	A	T	11: 67,770,779 (GRCm39)	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 9,786,915 (GRCm39)	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,315,632 (GRCm39)	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 41,695,251 (GRCm39)	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,213,166 (GRCm39)	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,070,935 (GRCm39)	N93K	probably damaging	Het
Wdr95	A	G	5: 149,505,351 (GRCm39)		probably null	Het
Xpot	A	T	10: 121,438,932 (GRCm39)		probably null	Het
Xrcc5	C	T	1: 72,364,246 (GRCm39)	Q233*	probably null	Het
Zbtb18	T	A	1: 177,275,077 (GRCm39)	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,639,598 (GRCm39)	G298*	probably null	Het
Zfp963	A	G	8: 70,196,100 (GRCm39)	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,353,393 (GRCm39)	Q336L	probably benign	Het

Other mutations in Nisch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Nisch	APN	14	30,898,596 (GRCm39)	unclassified	probably benign
IGL01934:Nisch	APN	14	30,898,696 (GRCm39)	unclassified	probably benign
IGL02201:Nisch	APN	14	30,909,051 (GRCm39)	unclassified	probably benign
IGL02964:Nisch	APN	14	30,902,769 (GRCm39)	unclassified	probably benign
IGL03340:Nisch	APN	14	30,895,101 (GRCm39)	missense	probably damaging	0.98
R0092:Nisch	UTSW	14	30,913,410 (GRCm39)	unclassified	probably benign
R0119:Nisch	UTSW	14	30,893,881 (GRCm39)	missense	probably damaging	1.00
R0196:Nisch	UTSW	14	30,925,351 (GRCm39)	unclassified	probably benign
R0299:Nisch	UTSW	14	30,893,881 (GRCm39)	missense	probably damaging	1.00
R0452:Nisch	UTSW	14	30,899,421 (GRCm39)	utr 3 prime	probably benign
R1529:Nisch	UTSW	14	30,902,895 (GRCm39)	unclassified	probably benign
R1643:Nisch	UTSW	14	30,895,125 (GRCm39)	missense	probably damaging	1.00
R1656:Nisch	UTSW	14	30,899,228 (GRCm39)	unclassified	probably benign
R1663:Nisch	UTSW	14	30,913,478 (GRCm39)	unclassified	probably benign
R1676:Nisch	UTSW	14	30,902,859 (GRCm39)	unclassified	probably benign
R1799:Nisch	UTSW	14	30,899,228 (GRCm39)	unclassified	probably benign
R1824:Nisch	UTSW	14	30,898,389 (GRCm39)	unclassified	probably benign
R1876:Nisch	UTSW	14	30,895,594 (GRCm39)	missense	probably damaging	1.00
R2107:Nisch	UTSW	14	30,894,097 (GRCm39)	missense	probably damaging	0.99
R2117:Nisch	UTSW	14	30,899,242 (GRCm39)	unclassified	probably benign
R2276:Nisch	UTSW	14	30,898,803 (GRCm39)	unclassified	probably benign
R2402:Nisch	UTSW	14	30,906,971 (GRCm39)	intron	probably benign
R3703:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3704:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3705:Nisch	UTSW	14	30,898,702 (GRCm39)	unclassified	probably benign
R3897:Nisch	UTSW	14	30,912,957 (GRCm39)	unclassified	probably benign
R4024:Nisch	UTSW	14	30,898,776 (GRCm39)	unclassified	probably benign
R4412:Nisch	UTSW	14	30,908,615 (GRCm39)	intron	probably benign
R4752:Nisch	UTSW	14	30,914,545 (GRCm39)	missense	probably damaging	1.00
R4832:Nisch	UTSW	14	30,899,587 (GRCm39)	utr 3 prime	probably benign
R5009:Nisch	UTSW	14	30,909,186 (GRCm39)	unclassified	probably benign
R5043:Nisch	UTSW	14	30,898,422 (GRCm39)	unclassified	probably benign
R5062:Nisch	UTSW	14	30,894,397 (GRCm39)	missense	probably damaging	0.99
R5254:Nisch	UTSW	14	30,928,524 (GRCm39)	splice site	probably null
R5754:Nisch	UTSW	14	30,913,373 (GRCm39)	unclassified	probably benign
R5906:Nisch	UTSW	14	30,893,985 (GRCm39)	splice site	probably null
R5930:Nisch	UTSW	14	30,895,102 (GRCm39)	missense	probably benign	0.11
R6246:Nisch	UTSW	14	30,894,516 (GRCm39)	missense	probably damaging	1.00
R6258:Nisch	UTSW	14	30,899,085 (GRCm39)	unclassified	probably benign
R6260:Nisch	UTSW	14	30,899,085 (GRCm39)	unclassified	probably benign
R6327:Nisch	UTSW	14	30,893,444 (GRCm39)	utr 3 prime	probably benign
R6671:Nisch	UTSW	14	30,926,420 (GRCm39)	unclassified	probably benign
R6874:Nisch	UTSW	14	30,898,641 (GRCm39)	unclassified	probably benign
R6887:Nisch	UTSW	14	30,907,301 (GRCm39)	unclassified	probably benign
R7273:Nisch	UTSW	14	30,896,364 (GRCm39)	missense	unknown
R7401:Nisch	UTSW	14	30,928,537 (GRCm39)	missense	probably benign	0.18
R7423:Nisch	UTSW	14	30,893,658 (GRCm39)	missense	probably benign	0.09
R7822:Nisch	UTSW	14	30,896,608 (GRCm39)	unclassified	probably benign
R7870:Nisch	UTSW	14	30,894,052 (GRCm39)	missense	probably damaging	1.00
R7887:Nisch	UTSW	14	30,898,652 (GRCm39)	nonsense	probably null
R8215:Nisch	UTSW	14	30,908,658 (GRCm39)	missense	possibly damaging	0.59
R8672:Nisch	UTSW	14	30,895,093 (GRCm39)	missense	probably damaging	1.00
R9082:Nisch	UTSW	14	30,899,331 (GRCm39)	missense	unknown
R9134:Nisch	UTSW	14	30,896,637 (GRCm39)	unclassified	probably benign
R9153:Nisch	UTSW	14	30,896,782 (GRCm39)	missense	unknown
R9240:Nisch	UTSW	14	30,906,988 (GRCm39)	missense	unknown
R9652:Nisch	UTSW	14	30,893,628 (GRCm39)	missense	probably damaging	1.00
R9653:Nisch	UTSW	14	30,893,628 (GRCm39)	missense	probably damaging	1.00
R9663:Nisch	UTSW	14	30,895,625 (GRCm39)	missense	probably damaging	1.00
R9667:Nisch	UTSW	14	30,895,646 (GRCm39)	missense	probably damaging	1.00
X0027:Nisch	UTSW	14	30,909,041 (GRCm39)	unclassified	probably benign
Z1177:Nisch	UTSW	14	30,899,395 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAGCCTCTGCTGAAGTTAGACC -3'
(R):5'- TGACTGAGATAGAGCAGGACACCC -3'

Sequencing Primer
(F):5'- gaagttagacctcggtcctc -3'
(R):5'- CAAACTGAAGACCATGTTGAGTC -3'

Posted On

2014-05-23