Mutagenetix > Incidental Mutation

Incidental Mutation 'R7423:Nisch'

575863

Institutional Source

Beutler Lab

Gene Symbol

Nisch

Ensembl Gene

ENSMUSG00000021910

Gene Name

nischarin

Synonyms

1200007D05Rik, edsn, 3202002H23Rik

MMRRC Submission

045501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30892885-30928783 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30893658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1305 (V1305A)

Ref Sequence

ENSEMBL: ENSMUSP00000132842 (fasta)

Gene Model

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

AlphaFold

Q80TM9

Predicted Effect

probably benign
Transcript: ENSMUST00000022469
AA Change: V1550A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V1550A

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 benign
Transcript: ENSMUST00000168206
AA Change: V1305A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V1305A

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

probably benign
Transcript: ENSMUST00000169628
AA Change: V290A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
AA Change: V290A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (91/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	T	17: 57,175,257 (GRCm39)	M85K	probably benign	Het
Actn4	C	T	7: 28,593,680 (GRCm39)	A905T	probably damaging	Het
Aff1	T	A	5: 103,994,967 (GRCm39)	V1055D	probably damaging	Het
Aox3	A	G	1: 58,160,228 (GRCm39)	E137G	possibly damaging	Het
Apaf1	A	T	10: 90,895,468 (GRCm39)	D443E	probably damaging	Het
Arl5b	C	A	2: 15,072,983 (GRCm39)	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,714,023 (GRCm39)	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,105 (GRCm39)	E13Q	probably null	Het
Atpaf1	A	T	4: 115,647,827 (GRCm39)	K162M	probably damaging	Het
C3	A	T	17: 57,521,767 (GRCm39)	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,764,422 (GRCm39)	L36P	probably damaging	Het
Cct3	T	C	3: 88,216,503 (GRCm39)	L153S	probably benign	Het
Chd4	A	G	6: 125,105,822 (GRCm39)	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,928,845 (GRCm39)	I64V	probably benign	Het
Cnot2	A	T	10: 116,328,303 (GRCm39)	V477E	probably damaging	Het
Csf2rb2	T	A	15: 78,176,760 (GRCm39)	I211F	possibly damaging	Het
Dnah8	T	C	17: 30,923,743 (GRCm39)	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,069,175 (GRCm39)	V130A	probably benign	Het
Dock10	G	A	1: 80,501,497 (GRCm39)	A1852V	possibly damaging	Het
Dock3	A	G	9: 106,844,370 (GRCm39)	V910A	probably damaging	Het
Drgx	A	G	14: 32,350,778 (GRCm39)	S205G	probably damaging	Het
Fbrs	G	A	7: 127,088,633 (GRCm39)	W738*	probably null	Het
Fmnl3	T	A	15: 99,227,281 (GRCm39)	D162V	probably damaging	Het
Fosl2	A	G	5: 32,307,807 (GRCm39)	R133G	probably damaging	Het
Frmpd1	A	G	4: 45,256,948 (GRCm39)	Q172R	probably damaging	Het
Fsd1l	A	T	4: 53,686,406 (GRCm39)	D273V	probably damaging	Het
Fstl4	T	A	11: 52,959,382 (GRCm39)	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,923,541 (GRCm39)	D535G	probably damaging	Het
Gm19410	A	C	8: 36,271,761 (GRCm39)	D1277A	probably benign	Het
Gnmt	T	A	17: 47,037,066 (GRCm39)	N211Y	probably damaging	Het
Hic2	A	G	16: 17,075,993 (GRCm39)	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,156,849 (GRCm39)		probably benign	Het
Icam5	T	C	9: 20,948,201 (GRCm39)	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,561,120 (GRCm39)	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,719,072 (GRCm39)	S337T	probably damaging	Het
Inf2	G	T	12: 112,576,172 (GRCm39)	R883L	unknown	Het
Inhbc	C	T	10: 127,193,275 (GRCm39)	C247Y	probably damaging	Het
Ints4	A	G	7: 97,156,926 (GRCm39)	K333E	probably damaging	Het
Iyd	A	T	10: 3,497,088 (GRCm39)	I148F	probably damaging	Het
Klk1b26	A	T	7: 43,664,193 (GRCm39)	D16V	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lama2	A	T	10: 27,088,222 (GRCm39)	S852T	probably benign	Het
Mbtd1	A	G	11: 93,834,622 (GRCm39)	E600G	probably benign	Het
Mfap3	T	G	11: 57,420,329 (GRCm39)	N103K	probably damaging	Het
Mtor	G	A	4: 148,640,801 (GRCm39)	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,056,685 (GRCm39)	S1210N	probably benign	Het
Nat8	G	A	6: 85,807,477 (GRCm39)	L219F	probably benign	Het
Nup153	A	T	13: 46,850,120 (GRCm39)		probably null	Het
Or3a1b	G	A	11: 74,012,811 (GRCm39)	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858 (GRCm39)		probably null	Het
Pbld2	A	G	10: 62,883,783 (GRCm39)	T83A	probably damaging	Het
Pcx	A	T	19: 4,671,206 (GRCm39)	M1144L	probably benign	Het
Pdpk1	C	A	17: 24,329,874 (GRCm39)	R81L	probably benign	Het
Pik3cd	A	T	4: 149,736,220 (GRCm39)		probably null	Het
Plch2	A	C	4: 155,068,194 (GRCm39)	D1477E	probably damaging	Het
Plek2	A	G	12: 78,946,884 (GRCm39)	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,315,142 (GRCm39)	V505A	probably benign	Het
Pofut2	T	C	10: 77,098,273 (GRCm39)	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,887,370 (GRCm39)		probably benign	Het
Proca1	G	T	11: 78,085,643 (GRCm39)		probably benign	Het
Ptprs	A	C	17: 56,721,793 (GRCm39)	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,501,856 (GRCm39)	V1127M	probably damaging	Het
Ralbp1	T	C	17: 66,165,976 (GRCm39)	R403G	probably damaging	Het
Reps1	A	T	10: 17,969,635 (GRCm39)	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,293 (GRCm39)	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,287,083 (GRCm39)	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408 (GRCm39)	V951E	probably damaging	Het
Sbf2	A	G	7: 110,038,055 (GRCm39)	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921 (GRCm39)		probably benign	Het
Shoc1	A	T	4: 59,076,264 (GRCm39)	S560T	probably benign	Het
Slc26a8	A	G	17: 28,867,177 (GRCm39)	I548T	probably benign	Het
Slc2a13	T	A	15: 91,456,883 (GRCm39)	I140F	probably damaging	Het
Smtn	A	T	11: 3,481,200 (GRCm39)		probably null	Het
Sobp	G	T	10: 42,898,564 (GRCm39)	C340*	probably null	Het
Sox6	A	T	7: 115,149,258 (GRCm39)	V413E	probably benign	Het
Spin1	T	C	13: 51,277,326 (GRCm39)		probably null	Het
Sra1	T	C	18: 36,800,536 (GRCm39)	T224A	probably benign	Het
Sv2c	A	T	13: 96,185,056 (GRCm39)	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,511,655 (GRCm39)	A266S	probably damaging	Het
Tprg1	T	G	16: 25,241,003 (GRCm39)	S260A	probably damaging	Het
Trdv2-1	T	A	14: 54,183,935 (GRCm39)	W56R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc4	T	A	3: 54,225,450 (GRCm39)	V933E	probably benign	Het
Ulk4	A	T	9: 120,932,687 (GRCm39)	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,272,743 (GRCm39)	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,445,394 (GRCm39)	S10F	probably benign	Het
Vwce	A	G	19: 10,641,704 (GRCm39)	E810G	probably benign	Het
Wdr7	T	A	18: 63,910,451 (GRCm39)		probably null	Het
Wnk2	T	A	13: 49,191,608 (GRCm39)	E1283V	probably benign	Het
Zfp28	T	C	7: 6,396,956 (GRCm39)	C464R	probably damaging	Het
Zpld1	C	T	16: 55,054,027 (GRCm39)	C255Y	probably damaging	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
R1750:Nisch	UTSW	14	30,896,839 (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
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'- CGGGCAATCAATGTAGGAACC -3'
(R):5'- CAGATACCGGCTAGACGATG -3'

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

Posted On

2019-10-07