Mutagenetix > Incidental Mutation

Incidental Mutation 'R7970:Gm9958'

650547

Institutional Source

Beutler Lab

Gene Symbol

Gm9958

Ensembl Gene

ENSMUSG00000054945

Gene Name

predicted gene 9958

Synonyms

MMRRC Submission

046013-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7970 (G1)

Quality Score

153.008

Status

Validated

Chromosome

Chromosomal Location

90514856-90516347 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 90515568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014421] [ENSMUST00000068250] [ENSMUST00000081914] [ENSMUST00000168058] [ENSMUST00000218526]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000014421

SMART Domains

Protein: ENSMUSP00000014421
Gene: ENSMUSG00000055204

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
coiled coil region	800	883	N/A	INTRINSIC
low complexity region	890	903	N/A	INTRINSIC
low complexity region	955	968	N/A	INTRINSIC
low complexity region	986	997	N/A	INTRINSIC
low complexity region	1046	1060	N/A	INTRINSIC
ANK	1078	1107	2.13e-4	SMART
ANK	1111	1140	8.19e-6	SMART
ANK	1145	1174	1.68e-2	SMART
ANK	1178	1207	1.61e-4	SMART
ANK	1213	1242	1.43e-5	SMART
ANK	1247	1276	1.83e-3	SMART
ANK	1280	1309	3.91e-3	SMART
ANK	1315	1344	1.93e-2	SMART
ANK	1348	1377	8.78e-6	SMART
ANK	1381	1410	7.59e-1	SMART
coiled coil region	1454	1522	N/A	INTRINSIC
low complexity region	1597	1611	N/A	INTRINSIC
low complexity region	1616	1636	N/A	INTRINSIC
KH	1720	1790	8.31e-14	SMART
low complexity region	1816	1827	N/A	INTRINSIC
low complexity region	1834	1850	N/A	INTRINSIC
low complexity region	1946	1989	N/A	INTRINSIC
low complexity region	1996	2024	N/A	INTRINSIC
low complexity region	2035	2052	N/A	INTRINSIC
low complexity region	2068	2077	N/A	INTRINSIC
low complexity region	2086	2110	N/A	INTRINSIC
low complexity region	2175	2189	N/A	INTRINSIC
low complexity region	2348	2365	N/A	INTRINSIC
low complexity region	2392	2411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068250

SMART Domains

Protein: ENSMUSP00000067622
Gene: ENSMUSG00000054945

Domain	Start	End	E-Value	Type
transmembrane domain	15	33	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081914

SMART Domains

Protein: ENSMUSP00000080587
Gene: ENSMUSG00000055204

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
low complexity region	795	809	N/A	INTRINSIC
ANK	827	856	2.13e-4	SMART
ANK	860	889	8.19e-6	SMART
ANK	894	923	1.68e-2	SMART
ANK	927	956	1.61e-4	SMART
ANK	962	991	1.43e-5	SMART
ANK	996	1025	1.83e-3	SMART
ANK	1029	1058	3.91e-3	SMART
ANK	1064	1093	1.93e-2	SMART
ANK	1097	1126	8.78e-6	SMART
ANK	1130	1159	7.59e-1	SMART
coiled coil region	1203	1271	N/A	INTRINSIC
low complexity region	1346	1360	N/A	INTRINSIC
low complexity region	1365	1385	N/A	INTRINSIC
KH	1469	1539	8.31e-14	SMART
low complexity region	1565	1576	N/A	INTRINSIC
low complexity region	1583	1599	N/A	INTRINSIC
low complexity region	1695	1738	N/A	INTRINSIC
low complexity region	1745	1773	N/A	INTRINSIC
low complexity region	1784	1801	N/A	INTRINSIC
low complexity region	1817	1826	N/A	INTRINSIC
low complexity region	1835	1859	N/A	INTRINSIC
low complexity region	1924	1938	N/A	INTRINSIC
low complexity region	2097	2114	N/A	INTRINSIC
low complexity region	2141	2160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168058

SMART Domains

Protein: ENSMUSP00000128960
Gene: ENSMUSG00000055204

Domain	Start	End	E-Value	Type
low complexity region	6	40	N/A	INTRINSIC
low complexity region	55	71	N/A	INTRINSIC
low complexity region	82	130	N/A	INTRINSIC
ANK	229	258	8.62e1	SMART
ANK	262	291	3.31e-1	SMART
ANK	296	325	3.51e-5	SMART
ANK	329	358	1.33e-5	SMART
ANK	362	391	3.46e-4	SMART
ANK	396	425	3.23e-4	SMART
ANK	429	458	1.61e-4	SMART
ANK	462	491	1.46e-2	SMART
ANK	495	524	3.88e-7	SMART
ANK	529	558	4.19e-3	SMART
ANK	559	588	1.76e-5	SMART
ANK	592	621	3.51e-5	SMART
ANK	625	654	5.62e-4	SMART
ANK	659	688	1.29e-3	SMART
ANK	692	721	1.44e-1	SMART
coiled coil region	800	883	N/A	INTRINSIC
low complexity region	890	903	N/A	INTRINSIC
low complexity region	955	968	N/A	INTRINSIC
low complexity region	986	997	N/A	INTRINSIC
low complexity region	1046	1060	N/A	INTRINSIC
ANK	1078	1107	2.13e-4	SMART
ANK	1111	1140	8.19e-6	SMART
ANK	1145	1174	1.68e-2	SMART
ANK	1178	1207	1.61e-4	SMART
ANK	1213	1242	1.43e-5	SMART
ANK	1247	1276	1.83e-3	SMART
ANK	1280	1309	3.91e-3	SMART
ANK	1315	1344	1.93e-2	SMART
ANK	1348	1377	8.78e-6	SMART
ANK	1381	1410	7.59e-1	SMART
coiled coil region	1454	1522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218526

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,449,266 (GRCm39)	F167L	probably damaging	Het
Acsbg2	A	G	17: 57,156,728 (GRCm39)	Y437H	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Anapc2	T	C	2: 25,163,299 (GRCm39)	S179P	possibly damaging	Het
Aopep	A	G	13: 63,180,974 (GRCm39)	N312S	probably benign	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Arrdc4	G	A	7: 68,390,820 (GRCm39)	P307S	probably damaging	Het
B3gnt2	T	C	11: 22,786,255 (GRCm39)	Y311C	probably damaging	Het
Brf1	T	C	12: 112,927,820 (GRCm39)	D453G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,221,828 (GRCm39)	C2544F	possibly damaging	Het
Efhc1	C	T	1: 21,022,019 (GRCm39)	T21M	probably benign	Het
Efs	A	G	14: 55,157,960 (GRCm39)		probably null	Het
Elp1	A	T	4: 56,771,466 (GRCm39)	Y944N	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam171a2	A	T	11: 102,328,692 (GRCm39)	V689E	possibly damaging	Het
Fam184a	T	C	10: 53,575,421 (GRCm39)	T63A	probably damaging	Het
Fam186a	T	C	15: 99,831,467 (GRCm39)	D2897G	unknown	Het
Fbxw11	T	G	11: 32,672,101 (GRCm39)	S224A	probably benign	Het
Flnc	G	T	6: 29,447,525 (GRCm39)	E1109D	possibly damaging	Het
Foxn4	A	G	5: 114,401,068 (GRCm39)		probably null	Het
Gm19410	A	G	8: 36,282,801 (GRCm39)	E2009G	probably benign	Het
Gprin3	C	T	6: 59,330,150 (GRCm39)	R719Q	possibly damaging	Het
Grip2	A	T	6: 91,763,513 (GRCm39)	I147N	probably benign	Het
H2-DMb2	A	G	17: 34,369,572 (GRCm39)	R239G	probably benign	Het
Hydin	A	C	8: 111,035,723 (GRCm39)	D138A	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr6	A	G	1: 134,921,723 (GRCm39)	I484T	probably benign	Het
Mkrn2	T	A	6: 115,594,269 (GRCm39)	C327S	probably damaging	Het
Mnt	C	T	11: 74,733,036 (GRCm39)	A288V	probably damaging	Het
Nckap5	T	A	1: 125,952,758 (GRCm39)	K1265*	probably null	Het
Ncoa3	A	T	2: 165,893,277 (GRCm39)	H194L	probably benign	Het
Ogn	A	T	13: 49,762,742 (GRCm39)	H28L	probably benign	Het
Or56a41	C	A	7: 104,740,556 (GRCm39)	V97L	probably benign	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Or9m1b	A	T	2: 87,836,169 (GRCm39)	F309I	probably benign	Het
Pclo	T	C	5: 14,764,492 (GRCm39)	S1037P		Het
Phlpp1	T	A	1: 106,101,015 (GRCm39)	Y428N	probably damaging	Het
Ptpre	A	G	7: 135,280,048 (GRCm39)	T591A	possibly damaging	Het
Rtn1	A	T	12: 72,355,648 (GRCm39)	D99E	probably benign	Het
Scn7a	A	T	2: 66,506,173 (GRCm39)	I1572N	probably damaging	Het
Sema3a	T	A	5: 13,649,375 (GRCm39)	M708K	possibly damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc9a2	T	C	1: 40,765,374 (GRCm39)	Y255H	probably damaging	Het
Spock3	T	C	8: 63,798,749 (GRCm39)	F254L	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
St6galnac2	T	C	11: 116,581,169 (GRCm39)	D51G	probably benign	Het
Stard13	T	A	5: 150,986,726 (GRCm39)	K261N	possibly damaging	Het
Tlk1	T	C	2: 70,582,644 (GRCm39)	R162G	possibly damaging	Het
Tlr2	T	C	3: 83,745,201 (GRCm39)	D294G	probably benign	Het
Tnks	A	G	8: 35,323,080 (GRCm39)		probably null	Het
Trip4	A	G	9: 65,746,298 (GRCm39)	S533P	probably damaging	Het
Ttc3	T	A	16: 94,258,223 (GRCm39)	W1674R	probably damaging	Het
Tut4	G	A	4: 108,343,651 (GRCm39)	S221N	probably benign	Het
Vmn2r114	T	C	17: 23,530,186 (GRCm39)	N74D	probably benign	Het
Zdbf2	T	C	1: 63,343,330 (GRCm39)	Y570H	possibly damaging	Het

Other mutations in Gm9958

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01961:Gm9958	APN	5	90,515,837 (GRCm39)	unclassified	probably benign
Z1177:Gm9958	UTSW	5	90,515,857 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTAAGTTTAGCTGAGTGCCTG -3'
(R):5'- GCTGGCACTCAAAGATTGC -3'

Sequencing Primer
(F):5'- TTGCCAGTACACTACGGA -3'
(R):5'- CTGGCACTCAAAGATTGCAAAAG -3'

Posted On

2020-09-15