Mutagenetix > Incidental Mutations

Incidental Mutation 'R0196:Nisch'

23460

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, 3202002H23Rik

MMRRC Submission

038455-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0196 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

31170930-31216946 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 31203394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000169169] [ENSMUST00000170268] [ENSMUST00000171735] [ENSMUST00000172142]

AlphaFold

Q80TM9

Predicted Effect

unknown
Transcript: ENSMUST00000022469
AA Change: K66E

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: K66E

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: ENSMUST00000161399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164617

Predicted Effect

unknown
Transcript: ENSMUST00000164989
AA Change: K66E

SMART Domains

Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910
AA Change: K66E

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_4	289	332	3.2e-8	PFAM
Pfam:LRR_1	290	311	2.9e-3	PFAM
Pfam:LRR_1	313	332	4.2e-2	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000165981
AA Change: K66E

SMART Domains

Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: K66E

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_7	289	305	7.4e-2	PFAM
Pfam:LRR_6	289	309	3.8e-2	PFAM
Pfam:LRR_4	289	333	5.9e-8	PFAM
Pfam:LRR_8	289	346	6.8e-10	PFAM
Pfam:LRR_1	290	311	4.4e-3	PFAM
Pfam:LRR_8	312	369	7.3e-9	PFAM
Pfam:LRR_1	313	333	1.8e-2	PFAM
Pfam:LRR_4	329	377	2.3e-8	PFAM
Pfam:LRR_6	333	354	2e-3	PFAM
Pfam:LRR_7	334	350	1.9e-1	PFAM
Pfam:LRR_1	335	354	1.2e-2	PFAM
Blast:LRR	378	403	1e-6	BLAST
Blast:LRR	403	429	1e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167602

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: ENSMUST00000169149

SMART Domains

Protein: ENSMUSP00000131623
Gene: ENSMUSG00000021910

Domain	Start	End	E-Value	Type
Blast:PX	2	27	1e-10	BLAST
PDB:3P0C\|B	2	33	7e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000169169

SMART Domains

Protein: ENSMUSP00000131991
Gene: ENSMUSG00000091898

Domain	Start	End	E-Value	Type
EFh	19	48	1.08e2	SMART
EFh	56	84	2.39e-8	SMART
EFh	96	124	2.7e-7	SMART
EFh	132	160	4.03e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170268

SMART Domains

Protein: ENSMUSP00000128765
Gene: ENSMUSG00000091898

Domain	Start	End	E-Value	Type
EFh	19	48	1.08e2	SMART
EFh	56	84	2.39e-8	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000171735
AA Change: K66E

SMART Domains

Protein: ENSMUSP00000127132
Gene: ENSMUSG00000021910
AA Change: K66E

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000172142
AA Change: K66E

SMART Domains

Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
AA Change: K66E

Domain	Start	End	E-Value	Type
PX	15	119	2.17e-26	SMART
Pfam:LRR_7	289	305	8.2e-2	PFAM
Pfam:LRR_6	289	309	4.2e-2	PFAM
Pfam:LRR_4	289	333	6.6e-8	PFAM
Pfam:LRR_8	289	346	7.6e-10	PFAM
Pfam:LRR_1	290	311	4.9e-3	PFAM
Pfam:LRR_8	312	369	7.7e-9	PFAM
Pfam:LRR_1	313	333	2e-2	PFAM
Pfam:LRR_4	329	377	2.7e-8	PFAM
Pfam:LRR_6	333	354	2.2e-3	PFAM
Pfam:LRR_7	334	350	2.1e-1	PFAM
Pfam:LRR_1	335	354	1.3e-2	PFAM
Blast:LRR	378	403	1e-6	BLAST
Blast:LRR	403	429	1e-7	BLAST
low complexity region	489	501	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247		probably benign	Het
Aass	G	A	6: 23,109,520	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643		probably null	Het
Amy1	A	T	3: 113,569,421	D92E	probably benign	Het
Asb15	G	A	6: 24,564,393	R282Q	probably damaging	Het
Bag6	G	C	17: 35,144,263	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806	R339G	probably damaging	Het
Cdh8	A	G	8: 99,190,434	S350P	probably damaging	Het
Cep295	A	T	9: 15,338,213	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,877,244	F974I	probably benign	Het
Gfi1b	T	C	2: 28,613,774	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514		probably null	Het
Hars2	C	T	18: 36,789,204	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,221	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729		probably null	Het
Klhl25	T	C	7: 75,865,702	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725		probably null	Het
Ncr1	G	T	7: 4,340,973	C153F	probably damaging	Het
Nf1	T	A	11: 79,468,769	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,578,272	V786D	probably damaging	Het
Nwd2	T	A	5: 63,806,351	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,756,698		probably null	Het
Pcnp	C	T	16: 56,024,533		probably benign	Het
Pdzd8	G	T	19: 59,301,131	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492		probably benign	Het
R3hdm2	T	C	10: 127,484,521	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254		probably benign	Het
Ugt1a1	C	T	1: 88,212,555	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,115,391	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,464,226	T350A	probably damaging	Het

Other mutations in Nisch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Nisch	APN	14	31176639	unclassified	probably benign
IGL01934:Nisch	APN	14	31176739	unclassified	probably benign
IGL02201:Nisch	APN	14	31187094	unclassified	probably benign
IGL02964:Nisch	APN	14	31180812	unclassified	probably benign
IGL03340:Nisch	APN	14	31173144	missense	probably damaging	0.98
R0092:Nisch	UTSW	14	31191453	unclassified	probably benign
R0119:Nisch	UTSW	14	31171924	missense	probably damaging	1.00
R0299:Nisch	UTSW	14	31171924	missense	probably damaging	1.00
R0452:Nisch	UTSW	14	31177464	utr 3 prime	probably benign
R1529:Nisch	UTSW	14	31180938	unclassified	probably benign
R1643:Nisch	UTSW	14	31173168	missense	probably damaging	1.00
R1656:Nisch	UTSW	14	31177271	unclassified	probably benign
R1663:Nisch	UTSW	14	31191521	unclassified	probably benign
R1676:Nisch	UTSW	14	31180902	unclassified	probably benign
R1750:Nisch	UTSW	14	31174882	unclassified	probably benign
R1799:Nisch	UTSW	14	31177271	unclassified	probably benign
R1824:Nisch	UTSW	14	31176432	unclassified	probably benign
R1876:Nisch	UTSW	14	31173637	missense	probably damaging	1.00
R2107:Nisch	UTSW	14	31172140	missense	probably damaging	0.99
R2117:Nisch	UTSW	14	31177285	unclassified	probably benign
R2276:Nisch	UTSW	14	31176846	unclassified	probably benign
R2402:Nisch	UTSW	14	31185014	intron	probably benign
R3703:Nisch	UTSW	14	31176745	unclassified	probably benign
R3704:Nisch	UTSW	14	31176745	unclassified	probably benign
R3705:Nisch	UTSW	14	31176745	unclassified	probably benign
R3897:Nisch	UTSW	14	31191000	unclassified	probably benign
R4024:Nisch	UTSW	14	31176819	unclassified	probably benign
R4412:Nisch	UTSW	14	31186658	intron	probably benign
R4752:Nisch	UTSW	14	31192588	missense	probably damaging	1.00
R4832:Nisch	UTSW	14	31177630	utr 3 prime	probably benign
R5009:Nisch	UTSW	14	31187229	unclassified	probably benign
R5043:Nisch	UTSW	14	31176465	unclassified	probably benign
R5062:Nisch	UTSW	14	31172440	missense	probably damaging	0.99
R5254:Nisch	UTSW	14	31206567	splice site	probably null
R5754:Nisch	UTSW	14	31191416	unclassified	probably benign
R5906:Nisch	UTSW	14	31172028	splice site	probably null
R5930:Nisch	UTSW	14	31173145	missense	probably benign	0.11
R6246:Nisch	UTSW	14	31172559	missense	probably damaging	1.00
R6258:Nisch	UTSW	14	31177128	unclassified	probably benign
R6260:Nisch	UTSW	14	31177128	unclassified	probably benign
R6327:Nisch	UTSW	14	31171487	utr 3 prime	probably benign
R6671:Nisch	UTSW	14	31204463	unclassified	probably benign
R6874:Nisch	UTSW	14	31176684	unclassified	probably benign
R6887:Nisch	UTSW	14	31185344	unclassified	probably benign
R7273:Nisch	UTSW	14	31174407	missense	unknown
R7401:Nisch	UTSW	14	31206580	missense	probably benign	0.18
R7423:Nisch	UTSW	14	31171701	missense	probably benign	0.09
R7822:Nisch	UTSW	14	31174651	unclassified	probably benign
R7870:Nisch	UTSW	14	31172095	missense	probably damaging	1.00
R7887:Nisch	UTSW	14	31176695	nonsense	probably null
R8215:Nisch	UTSW	14	31186701	missense	possibly damaging	0.59
R8672:Nisch	UTSW	14	31173136	missense	probably damaging	1.00
R9082:Nisch	UTSW	14	31177374	missense	unknown
R9134:Nisch	UTSW	14	31174680	unclassified	probably benign
R9153:Nisch	UTSW	14	31174825	missense	unknown
R9240:Nisch	UTSW	14	31185031	missense	unknown
X0027:Nisch	UTSW	14	31187084	unclassified	probably benign
Z1177:Nisch	UTSW	14	31177438	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTCTGTGTCTCCTCAAAGCCAAG -3'
(R):5'- TGCATTAGTTGGAGCACTAATCCCG -3'

Sequencing Primer
(F):5'- CCCCAAAGGAACTTACATAGAGGTG -3'
(R):5'- ACTAATCCCGGCCCTGC -3'

Posted On

2013-04-16