Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Nisch'

735403

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, 3202002H23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31170930-31216946 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31171671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1315 (V1315E)

Ref Sequence

ENSEMBL: ENSMUSP00000132842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000036618] [ENSMUST00000167449] [ENSMUST00000168206] [ENSMUST00000169628]

AlphaFold

Q80TM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022469
AA Change: V1560E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V1560E

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 benign
Transcript: ENSMUST00000036618

SMART Domains

Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	112	149	6.65e-2	SMART
EGF	160	194	2.28e0	SMART
EGF	199	232	1.4e0	SMART
EGF	236	272	4.97e-1	SMART
EGF	276	319	1.95e1	SMART
EGF_like	321	357	5.03e1	SMART
low complexity region	400	413	N/A	INTRINSIC
Blast:FAS1	414	501	2e-52	BLAST
FAS1	543	645	1.35e-24	SMART
EGF_like	780	817	5.45e1	SMART
EGF	822	861	1.08e-1	SMART
EGF	865	904	3.15e-3	SMART
EGF	908	947	1.3e1	SMART
EGF	951	989	1.47e1	SMART
FAS1	1023	1122	1.3e-17	SMART
FAS1	1165	1257	2.94e0	SMART
EGF	1332	1369	1.4e0	SMART
EGF	1379	1413	1.88e-1	SMART
EGF	1420	1455	6.02e0	SMART
EGF	1459	1497	3.82e-2	SMART
EGF	1501	1540	2.05e-2	SMART
EGF	1544	1583	2.25e1	SMART
FAS1	1616	1712	1.61e-22	SMART
FAS1	1763	1868	2.12e-17	SMART
EGF	1970	2007	1.26e-2	SMART
EGF	2017	2051	1.61e0	SMART
EGF	2059	2090	2.45e0	SMART
EGF	2094	2131	3.46e0	SMART
EGF	2135	2174	3.82e-2	SMART
LINK	2206	2301	8.55e-49	SMART
FAS1	2367	2462	2.06e-6	SMART
transmembrane domain	2476	2498	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167449

Predicted Effect

probably damaging
Transcript: ENSMUST00000168206
AA Change: V1315E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V1315E

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

possibly damaging
Transcript: ENSMUST00000169628
AA Change: V300E

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
AA Change: V300E

Domain	Start	End	E-Value	Type
low complexity region	231	249	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: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,743,361	T395M	probably damaging	Het
Akap8l	T	C	17: 32,338,809	N35D	probably damaging	Het
Atr	T	A	9: 95,874,834	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,254,497	F86L	probably damaging	Het
Bmp1	T	C	14: 70,477,920	D925G	probably damaging	Het
C77080	T	C	4: 129,224,169	E279G	possibly damaging	Het
Camkmt	A	T	17: 85,452,285	R284S	probably benign	Het
Cavin3	G	T	7: 105,482,097	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,735,330	H180R		Het
Cdh23	A	T	10: 60,331,356	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Chpt1	T	C	10: 88,489,637	N122S	probably benign	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Ctbp2	C	G	7: 133,014,204	R334P	probably damaging	Het
Cwh43	T	C	5: 73,414,997	S193P	probably benign	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dst	T	A	1: 34,180,377	I1966N	probably benign	Het
Eif3i	G	T	4: 129,595,301	F121L	probably benign	Het
Erbb2	T	C	11: 98,435,986	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbn2	A	G	18: 58,013,650		probably null	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Gm2a	T	C	11: 55,108,938	V95A	probably benign	Het
Gp5	A	C	16: 30,309,575	F94V	probably damaging	Het
Gramd4	G	A	15: 86,131,959	E504K	probably damaging	Het
Gusb	A	G	5: 129,997,811	S450P	probably damaging	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Itpkb	G	T	1: 180,332,491	E61*	probably null	Het
Katnbl1	T	A	2: 112,409,152	V232D	probably damaging	Het
Kifap3	T	C	1: 163,862,088	L547P	probably damaging	Het
Krt6a	C	T	15: 101,690,685	V482M	probably benign	Het
Lrfn5	T	A	12: 61,843,632	V569D	probably damaging	Het
Luzp2	A	G	7: 55,052,832	T48A	probably damaging	Het
Mical2	G	T	7: 112,346,789	R986L	probably damaging	Het
Mroh8	G	A	2: 157,253,050	Q339*	probably null	Het
Msln	A	T	17: 25,749,068	V541E	probably damaging	Het
Muc16	T	A	9: 18,586,882	M6590L	probably benign	Het
Nubp2	G	A	17: 24,884,408	T165I	probably damaging	Het
Olfr1089	A	T	2: 86,733,292	F107I	probably damaging	Het
Olfr13	A	G	6: 43,174,057	M24V	probably benign	Het
Olfr57	T	C	10: 79,035,396	I200T	probably benign	Het
Olfr682-ps1	A	T	7: 105,126,778	N164K	probably benign	Het
Olfr820	T	C	10: 130,017,940	I193T	possibly damaging	Het
Oog3	T	G	4: 144,157,919	R482S	probably benign	Het
P3h4	A	T	11: 100,413,673	C247*	probably null	Het
Palm2	G	A	4: 57,710,125	A357T	possibly damaging	Het
Plch2	T	A	4: 154,998,485	M569L	probably benign	Het
Plcl1	A	G	1: 55,696,291	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,927,563	N178K	probably benign	Het
Rasa4	T	C	5: 136,101,640	L340P	probably damaging	Het
Rassf10	A	G	7: 112,955,577	T462A	probably benign	Het
Rlf	G	C	4: 121,150,668	L482V	probably damaging	Het
Robo1	T	G	16: 73,024,442	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,032,265	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,728,354	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,804,702	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,249,185	Q765R	probably damaging	Het
Senp6	T	A	9: 80,113,946	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,883,532	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,648,632		probably null	Het
Snrnp200	G	T	2: 127,226,039	V819L	probably damaging	Het
Ssb	C	A	2: 69,870,440	A288E	probably damaging	Het
Syne2	A	G	12: 76,054,846	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,626,200	S43P	probably benign	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,174	R657*	probably null	Het
Traf6	T	C	2: 101,688,582	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,884,556	N424K	possibly damaging	Het
Ubqln3	T	C	7: 104,142,755	I43V	probably damaging	Het
Usp32	A	G	11: 85,030,491	V699A	probably damaging	Het
Vmn2r103	T	C	17: 19,793,765	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,803,241	S113P	probably benign	Het
Wdr7	T	A	18: 63,727,755	I161N	probably damaging	Het
Zfp474	A	T	18: 52,638,943	I223F	probably damaging	Het
Zfp583	A	G	7: 6,317,329	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,177,417	T76A	possibly 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
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
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
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'- CGGGCAATCAATGTAGGAACC -3'
(R):5'- GACAGATACCGGCTAGACGATG -3'

Sequencing Primer
(F):5'- AACGCAGAAGGCCGCTTC -3'
(R):5'- GGCTAGACGATGGCCGC -3'

Posted On

2022-11-14