Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Gm597'

224059

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

040031-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28778153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 266 (V266D)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059937]

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: V266D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: V266D

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	112	129	N/A	INTRINSIC
Pfam:FAM75	137	472	8.1e-14	PFAM
low complexity region	664	675	N/A	INTRINSIC
internal_repeat_1	718	807	1.4e-5	PROSPERO
internal_repeat_1	807	894	1.4e-5	PROSPERO

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1cl	T	A	1: 65,014,698	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,347,227	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,365,282	M1K	probably null	Het
Atp4b	A	C	8: 13,387,477	N225K	possibly damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Cactin	C	T	10: 81,322,893	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418	H1423N	probably benign	Het
Chd9	T	C	8: 91,035,054	Y2256H	probably benign	Het
Chst8	A	G	7: 34,675,164	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,010,652		probably null	Het
Clec5a	A	T	6: 40,585,194	V12E	probably damaging	Het
Crebbp	C	T	16: 4,085,819	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,812,780		probably benign	Het
Dip2c	T	C	13: 9,551,800	L265P	probably damaging	Het
Dnah3	A	G	7: 119,951,242	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,027,422	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,276,221	S362P	probably damaging	Het
Dst	G	A	1: 34,166,291	V1025I	possibly damaging	Het
Dym	T	C	18: 75,080,250	V181A	probably benign	Het
Elk3	T	A	10: 93,265,677	I71F	probably damaging	Het
Epb41l4a	C	T	18: 33,921,840	S65N	probably benign	Het
Erap1	T	A	13: 74,666,508	V451E	probably benign	Het
F830045P16Rik	T	A	2: 129,472,665	I231F	probably damaging	Het
Fahd1	T	C	17: 24,849,840	I88V	probably benign	Het
Fam120b	C	T	17: 15,424,376	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Frem1	G	T	4: 82,913,558	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,447,597	T161S	probably benign	Het
Gm5346	A	T	8: 43,625,917	C423*	probably null	Het
Gm6309	C	T	5: 146,168,311	G264D	probably benign	Het
Gm9268	A	G	7: 43,024,030	N171D	probably benign	Het
Hsd11b1	T	C	1: 193,240,378	T124A	probably benign	Het
Ino80b	A	G	6: 83,124,372	M119T	probably damaging	Het
Kif3a	G	A	11: 53,570,581	V17M	probably damaging	Het
Krt40	T	A	11: 99,539,992	E285D	probably damaging	Het
Lair1	C	G	7: 4,063,064		probably null	Het
Lvrn	A	G	18: 46,866,436	T290A	possibly damaging	Het
Macf1	G	T	4: 123,472,730	A2746E	probably damaging	Het
Matn4	A	G	2: 164,400,653	V175A	probably damaging	Het
Mok	A	T	12: 110,811,823	D216E	probably benign	Het
Muc15	A	T	2: 110,731,476	T86S	probably benign	Het
Myo16	A	G	8: 10,272,633	K21R	probably benign	Het
Ncl	A	G	1: 86,356,955		probably null	Het
Nfrkb	C	T	9: 31,411,250	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,597,278	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,384,796	Y453N	probably damaging	Het
Notch4	T	C	17: 34,587,528	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,376,352	D515V	probably damaging	Het
Nsd1	T	C	13: 55,213,279	V20A	probably damaging	Het
Olfr825	T	C	10: 130,163,180	M49V	probably benign	Het
Opn4	T	A	14: 34,597,071	T186S	probably benign	Het
Pcdh15	T	G	10: 74,631,193	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,294,914	E24V	possibly damaging	Het
Pigg	A	T	5: 108,312,922		probably benign	Het
Plscr2	A	G	9: 92,295,594	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723	I76V	probably benign	Het
Prdm6	A	G	18: 53,464,959		probably benign	Het
Prex1	A	G	2: 166,575,614	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,225,458	R65*	probably null	Het
Prom1	G	T	5: 44,029,726	D396E	probably benign	Het
Ptcd3	C	T	6: 71,885,553	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Rab36	T	C	10: 75,052,474	I250T	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Scn11a	G	T	9: 119,811,208	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,078,452	V302A	probably benign	Het
Slc22a16	T	C	10: 40,591,877	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,716	N262D	possibly damaging	Het
Sptan1	C	T	2: 30,007,561	A1212V	probably damaging	Het
Ssr1	C	T	13: 37,989,549	A79T	probably damaging	Het
Tctex1d4	A	G	4: 117,128,307	E109G	possibly damaging	Het
Tiam1	T	A	16: 89,877,187	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,238,792	F280S	probably damaging	Het
Tmem72	T	C	6: 116,696,839	H106R	probably damaging	Het
Tnr	A	G	1: 159,852,022	I189V	probably benign	Het
Tpbpa	T	A	13: 60,940,222	N50I	probably benign	Het
Tshz1	T	A	18: 84,013,862	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,448,722	A131T	possibly damaging	Het
Usp16	T	C	16: 87,473,126	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,611,510	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,637,401	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,527,991	L60P	probably damaging	Het
Vps51	T	C	19: 6,071,582	E162G	probably benign	Het
Wdr66	G	A	5: 123,273,790	G495D	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,793,990		probably benign	Het
Zdhhc4	C	T	5: 143,321,783	R161H	probably damaging	Het
Zfp456	A	T	13: 67,366,497	C363*	probably null	Het
Zfp541	T	A	7: 16,082,185	S866T	probably damaging	Het

Other mutations in Gm597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Gm597	APN	1	28778651	missense	possibly damaging	0.94
IGL00885:Gm597	APN	1	28776845	missense	unknown
IGL01296:Gm597	APN	1	28777056	missense	probably benign	0.23
IGL01476:Gm597	APN	1	28777453	missense	probably benign	0.04
IGL02125:Gm597	APN	1	28776338	missense	possibly damaging	0.91
IGL02410:Gm597	APN	1	28778631	missense	probably benign	0.25
IGL02982:Gm597	APN	1	28778054	missense	probably damaging	1.00
IGL03031:Gm597	APN	1	28778583	missense	probably benign	0.03
IGL03267:Gm597	APN	1	28777121	missense	probably damaging	1.00
R0294:Gm597	UTSW	1	28778663	missense	probably benign	0.00
R0433:Gm597	UTSW	1	28777342	nonsense	probably null
R0485:Gm597	UTSW	1	28778142	missense	probably damaging	1.00
R0645:Gm597	UTSW	1	28776930	missense	probably damaging	0.99
R0744:Gm597	UTSW	1	28777821	missense	possibly damaging	0.46
R0836:Gm597	UTSW	1	28777821	missense	possibly damaging	0.46
R1036:Gm597	UTSW	1	28777802	missense	probably benign	0.01
R1302:Gm597	UTSW	1	28776340	missense	probably benign	0.00
R1394:Gm597	UTSW	1	28776809	missense	possibly damaging	0.61
R1395:Gm597	UTSW	1	28776809	missense	possibly damaging	0.61
R1514:Gm597	UTSW	1	28778748	missense	possibly damaging	0.83
R1535:Gm597	UTSW	1	28777424	missense	probably damaging	1.00
R2004:Gm597	UTSW	1	28777179	missense	probably damaging	1.00
R2021:Gm597	UTSW	1	28778153	missense	probably damaging	0.98
R3115:Gm597	UTSW	1	28776329	missense	possibly damaging	0.92
R3615:Gm597	UTSW	1	28776575	missense	probably benign	0.26
R3616:Gm597	UTSW	1	28776575	missense	probably benign	0.26
R3862:Gm597	UTSW	1	28777641	missense	probably damaging	0.98
R4067:Gm597	UTSW	1	28777631	missense	probably damaging	0.98
R4119:Gm597	UTSW	1	28777973	missense	probably damaging	0.99
R4415:Gm597	UTSW	1	28777133	missense	probably benign	0.01
R5010:Gm597	UTSW	1	28777862	missense	possibly damaging	0.52
R5109:Gm597	UTSW	1	28777555	missense	possibly damaging	0.46
R5122:Gm597	UTSW	1	28780060	missense	probably benign	0.00
R5533:Gm597	UTSW	1	28778082	missense	probably damaging	1.00
R6085:Gm597	UTSW	1	28778227	missense	possibly damaging	0.55
R6116:Gm597	UTSW	1	28778699	missense	probably benign	0.01
R6750:Gm597	UTSW	1	28777414	missense	probably damaging	0.98
R6757:Gm597	UTSW	1	28780110	missense	probably damaging	0.98
R6774:Gm597	UTSW	1	28776893	missense	probably benign	0.00
R7156:Gm597	UTSW	1	28776767	missense	possibly damaging	0.53
R7365:Gm597	UTSW	1	28780152	missense	probably benign	0.04
R7739:Gm597	UTSW	1	28777608	missense	possibly damaging	0.72
R7996:Gm597	UTSW	1	28778406	missense	probably damaging	0.98
R8082:Gm597	UTSW	1	28777498	missense	probably benign	0.08
R8281:Gm597	UTSW	1	28778144	missense	possibly damaging	0.77
R8514:Gm597	UTSW	1	28778505	missense	probably damaging	1.00
R8944:Gm597	UTSW	1	28777074	missense	probably benign	0.00
R9042:Gm597	UTSW	1	28776956	missense	possibly damaging	0.72
R9101:Gm597	UTSW	1	28776659	missense	probably benign	0.04
R9106:Gm597	UTSW	1	28776894	missense	probably benign	0.00
R9173:Gm597	UTSW	1	28777349	missense	probably benign	0.22
R9596:Gm597	UTSW	1	28776607	missense	probably benign	0.07
R9632:Gm597	UTSW	1	28778039	missense	probably benign	0.20
R9656:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9659:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9661:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9663:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9710:Gm597	UTSW	1	28778039	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- AAAGCTCCCTGAAGCTGTGG -3'
(R):5'- TGTGACAGAGGTTCAGGAAC -3'

Sequencing Primer
(F):5'- GCTGTTCCTCAGATGGGAG -3'
(R):5'- GGTTCAGGAACAAGAAAACCTC -3'

Posted On

2014-08-25