Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Nisch'

512261

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, 3202002H23Rik

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5254 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

31170930-31216946 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 31206567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132413 (fasta)

Gene Model

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

AlphaFold

Q80TM9

Predicted Effect

probably null
Transcript: ENSMUST00000022469

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910

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

probably null
Transcript: ENSMUST00000022469

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910

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

silent
Transcript: ENSMUST00000164989

SMART Domains

Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910

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

probably null
Transcript: ENSMUST00000165981

SMART Domains

Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910

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

probably null
Transcript: ENSMUST00000165981

SMART Domains

Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910

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

probably null
Transcript: ENSMUST00000171735

SMART Domains

Protein: ENSMUSP00000127132
Gene: ENSMUSG00000021910

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

Predicted Effect

probably null
Transcript: ENSMUST00000171735

SMART Domains

Protein: ENSMUSP00000127132
Gene: ENSMUSG00000021910

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

Predicted Effect

probably null
Transcript: ENSMUST00000172142

SMART Domains

Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910

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

Predicted Effect

probably null
Transcript: ENSMUST00000172142

SMART Domains

Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,458,398	C296*	probably null	Het
Adam11	T	A	11: 102,774,272	Y413*	probably null	Het
Ankhd1	A	G	18: 36,656,715	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,746,416		probably benign	Het
Cd200r4	A	C	16: 44,832,090	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208	D286G	probably damaging	Het
Ggt1	T	A	10: 75,579,198		probably null	Het
Gm26526	A	T	7: 39,589,234		noncoding transcript	Het
H2-K1	T	C	17: 33,997,462	T237A	probably damaging	Het
Igf1r	T	A	7: 68,207,319	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598	R327*	probably null	Het
Lama1	T	A	17: 67,756,716	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745		probably benign	Het
Mbip	A	G	12: 56,337,443	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922	V398D	probably benign	Het
Mog	T	G	17: 37,012,372	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297	M262K	probably damaging	Het
Nkd1	A	G	8: 88,589,194	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560	K284*	probably null	Het
Olfr1052	A	T	2: 86,297,921	Y35F	probably damaging	Het
Olfr1058	A	T	2: 86,386,140	S93T	possibly damaging	Het
Olfr262	A	G	19: 12,241,248	S138P	probably damaging	Het
Olfr305	A	T	7: 86,364,190	V49E	possibly damaging	Het
Olfr619	T	G	7: 103,603,789	I45R	probably benign	Het
Olfr723	A	T	14: 49,928,779	I255N	probably damaging	Het
Olfr725	C	A	14: 50,034,678	A242S	possibly damaging	Het
Olfr972	A	T	9: 39,873,445	T57S	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620	D243V	probably benign	Het
Polq	A	T	16: 37,089,319	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Tarbp1	G	A	8: 126,467,156	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033	K158N	probably benign	Het
Tnip2	G	T	5: 34,503,578	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075		probably null	Het
Ttc28	C	T	5: 111,271,238	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318	C542S	probably damaging	Het
Wiz	T	A	17: 32,378,496		probably benign	Het
Wrap73	A	G	4: 154,155,346	Y343C	probably benign	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
R0196:Nisch	UTSW	14	31203394	unclassified	probably benign
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
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
R9652:Nisch	UTSW	14	31171671	missense	probably damaging	1.00
R9653:Nisch	UTSW	14	31171671	missense	probably damaging	1.00
R9663:Nisch	UTSW	14	31173668	missense	probably damaging	1.00
R9667:Nisch	UTSW	14	31173689	missense	probably damaging	1.00
X0027:Nisch	UTSW	14	31187084	unclassified	probably benign
Z1177:Nisch	UTSW	14	31177438	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCCAGAACCTATGCGAC -3'
(R):5'- CACTGGTTGTGCTGTCAATTAC -3'

Sequencing Primer
(F):5'- AGAACCTATGCGACCCGGC -3'
(R):5'- TGCTGTCAATTACGGGCAAG -3'

Posted On

2018-04-12