Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Gm597'

571672

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

045449-MU

Accession Numbers

Essential gene?

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

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28780152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 16 (M16K)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably benign
Transcript: ENSMUST00000059937
AA Change: M16K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: M16K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,562,936 (GRCm38)	S155G	probably benign	Het
Abcc4	T	C	14: 118,627,654 (GRCm38)	N320S	probably damaging	Het
Akr1c19	G	A	13: 4,237,070 (GRCm38)	R96H	probably benign	Het
Ankrd17	T	C	5: 90,291,151 (GRCm38)	D451G	possibly damaging	Het
Ano8	T	A	8: 71,485,110 (GRCm38)	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003 (GRCm38)	V36A	probably benign	Het
Atf7ip	A	G	6: 136,560,710 (GRCm38)	T314A	probably benign	Het
Atp2c1	A	T	9: 105,422,999 (GRCm38)	D700E	probably damaging	Het
Axin2	G	A	11: 108,939,376 (GRCm38)	V341M	possibly damaging	Het
Bin3	A	G	14: 70,134,527 (GRCm38)	Q139R	probably damaging	Het
Brca2	A	G	5: 150,532,337 (GRCm38)	D181G	probably damaging	Het
C330027C09Rik	T	A	16: 49,001,653 (GRCm38)	S215T	probably benign	Het
Capn3	A	G	2: 120,494,814 (GRCm38)	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,723,619 (GRCm38)	Y830*	probably null	Het
Cdk12	T	C	11: 98,221,084 (GRCm38)	F723L	unknown	Het
Cep89	G	A	7: 35,429,928 (GRCm38)	R630H	probably damaging	Het
Clca2	T	A	3: 145,098,784 (GRCm38)	I61F	probably damaging	Het
Clca4b	T	C	3: 144,922,768 (GRCm38)	T393A	not run	Het
Cldn5	G	A	16: 18,777,095 (GRCm38)	A34T	probably damaging	Het
Cobll1	A	T	2: 65,098,373 (GRCm38)	S870T	probably damaging	Het
Col12a1	T	C	9: 79,706,360 (GRCm38)	K68E	probably damaging	Het
Crnn	A	T	3: 93,148,534 (GRCm38)	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,132,140 (GRCm38)	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,207,440 (GRCm38)	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,667,811 (GRCm38)		probably null	Het
Dcc	G	A	18: 71,826,123 (GRCm38)	P193S	probably damaging	Het
Dda1	T	A	8: 71,474,493 (GRCm38)	C48S	probably benign	Het
Disc1	A	G	8: 125,155,041 (GRCm38)	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,497,138 (GRCm38)	M2582K	probably benign	Het
Dsel	C	T	1: 111,861,573 (GRCm38)	G411S	probably damaging	Het
Dynlrb2	T	C	8: 116,514,957 (GRCm38)	V80A	probably benign	Het
Eif3a	A	T	19: 60,766,644 (GRCm38)	D1033E	unknown	Het
Enam	C	A	5: 88,501,488 (GRCm38)	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,719,614 (GRCm38)	D980G	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Erc2	A	C	14: 28,040,389 (GRCm38)	D703A	probably damaging	Het
Ezh2	G	T	6: 47,533,758 (GRCm38)	S639*	probably null	Het
Fbn1	G	A	2: 125,352,049 (GRCm38)	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,408,665 (GRCm38)	S197P	possibly damaging	Het
Gfm2	G	T	13: 97,143,021 (GRCm38)	C26F	probably benign	Het
Gm5294	A	G	5: 138,820,981 (GRCm38)	H82R	probably damaging	Het
Golga2	C	T	2: 32,303,001 (GRCm38)	Q444*	probably null	Het
Gp5	A	T	16: 30,308,608 (GRCm38)	V416D	probably damaging	Het
Gpat2	A	G	2: 127,426,981 (GRCm38)		probably null	Het
Gpr137c	A	G	14: 45,279,014 (GRCm38)	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,259,882 (GRCm38)	W133G	probably damaging	Het
Hydin	A	T	8: 110,557,662 (GRCm38)	I3189F	probably damaging	Het
Hydin	A	T	8: 110,601,273 (GRCm38)	K4804M	probably damaging	Het
Ice2	T	C	9: 69,400,512 (GRCm38)	F26S	probably damaging	Het
Ints11	T	C	4: 155,872,230 (GRCm38)		probably null	Het
Ipo5	A	G	14: 120,920,085 (GRCm38)	I112V	probably benign	Het
Itgax	T	A	7: 128,135,309 (GRCm38)	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,389,017 (GRCm38)	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,744,867 (GRCm38)	V359E	possibly damaging	Het
Lrrc7	T	G	3: 158,198,161 (GRCm38)	K287N	probably damaging	Het
Mau2	C	T	8: 70,029,234 (GRCm38)	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747 (GRCm38)	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,610,371 (GRCm38)	K746*	probably null	Het
Myh4	A	G	11: 67,242,848 (GRCm38)	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,371,397 (GRCm38)	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm38)	S15A	possibly damaging	Het
Ntn4	T	C	10: 93,644,804 (GRCm38)	L130P	probably damaging	Het
Olfr1240	A	G	2: 89,440,198 (GRCm38)	V27A	probably benign	Het
Olfr1312	A	T	2: 112,043,014 (GRCm38)	V6E	possibly damaging	Het
Olfr682-ps1	T	A	7: 105,128,345 (GRCm38)	I21F	probably benign	Het
Olfr695	A	G	7: 106,713,964 (GRCm38)	V239A	probably benign	Het
Olfr930	A	T	9: 38,930,776 (GRCm38)	I202F	probably damaging	Het
Otog	T	C	7: 46,298,308 (GRCm38)	L110P	probably damaging	Het
Platr25	G	A	13: 62,700,905 (GRCm38)	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,980,426 (GRCm38)	E145G	probably damaging	Het
Pltp	A	T	2: 164,854,322 (GRCm38)	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,161,334 (GRCm38)	Y735H	probably damaging	Het
Prom1	A	G	5: 44,020,831 (GRCm38)	Y520H	probably damaging	Het
Rag2	A	G	2: 101,630,773 (GRCm38)	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,877,024 (GRCm38)	Y297C	probably damaging	Het
Ryr1	T	C	7: 29,085,755 (GRCm38)	E1844G	probably benign	Het
Ryr2	A	G	13: 11,640,275 (GRCm38)	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,322,003 (GRCm38)	I544T	probably benign	Het
Slc26a10	A	T	10: 127,176,847 (GRCm38)	I382N	possibly damaging	Het
Sox2	C	A	3: 34,650,972 (GRCm38)	P186Q	possibly damaging	Het
Tnpo3	A	G	6: 29,556,996 (GRCm38)	L752P	probably damaging	Het
Top2b	T	A	14: 16,416,649 (GRCm38)	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Ttf2	C	A	3: 100,963,302 (GRCm38)	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,714,788 (GRCm38)	L4P	unknown	Het
Unc5a	T	C	13: 54,996,573 (GRCm38)	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Vav3	C	A	3: 109,628,099 (GRCm38)	P616T	possibly damaging	Het
Vmn2r15	A	G	5: 109,297,522 (GRCm38)	L12S	probably benign	Het
Vmn2r15	T	A	5: 109,293,239 (GRCm38)	D251V	probably benign	Het
Wfs1	A	C	5: 36,967,732 (GRCm38)	I605S	probably benign	Het
Wif1	G	A	10: 121,083,909 (GRCm38)	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,350,541 (GRCm38)		probably null	Het
Zdhhc20	G	T	14: 57,873,920 (GRCm38)	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,776,418 (GRCm38)	T303A	unknown	Het
Zfp763	A	T	17: 33,033,378 (GRCm38)		probably benign	Het

Other mutations in Gm597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Gm597	APN	1	28,778,651 (GRCm38)	missense	possibly damaging	0.94
IGL00885:Gm597	APN	1	28,776,845 (GRCm38)	missense	unknown
IGL01296:Gm597	APN	1	28,777,056 (GRCm38)	missense	probably benign	0.23
IGL01476:Gm597	APN	1	28,777,453 (GRCm38)	missense	probably benign	0.04
IGL02125:Gm597	APN	1	28,776,338 (GRCm38)	missense	possibly damaging	0.91
IGL02410:Gm597	APN	1	28,778,631 (GRCm38)	missense	probably benign	0.25
IGL02982:Gm597	APN	1	28,778,054 (GRCm38)	missense	probably damaging	1.00
IGL03031:Gm597	APN	1	28,778,583 (GRCm38)	missense	probably benign	0.03
IGL03267:Gm597	APN	1	28,777,121 (GRCm38)	missense	probably damaging	1.00
R0294:Gm597	UTSW	1	28,778,663 (GRCm38)	missense	probably benign	0.00
R0433:Gm597	UTSW	1	28,777,342 (GRCm38)	nonsense	probably null
R0485:Gm597	UTSW	1	28,778,142 (GRCm38)	missense	probably damaging	1.00
R0645:Gm597	UTSW	1	28,776,930 (GRCm38)	missense	probably damaging	0.99
R0744:Gm597	UTSW	1	28,777,821 (GRCm38)	missense	possibly damaging	0.46
R0836:Gm597	UTSW	1	28,777,821 (GRCm38)	missense	possibly damaging	0.46
R1036:Gm597	UTSW	1	28,777,802 (GRCm38)	missense	probably benign	0.01
R1302:Gm597	UTSW	1	28,776,340 (GRCm38)	missense	probably benign	0.00
R1394:Gm597	UTSW	1	28,776,809 (GRCm38)	missense	possibly damaging	0.61
R1395:Gm597	UTSW	1	28,776,809 (GRCm38)	missense	possibly damaging	0.61
R1514:Gm597	UTSW	1	28,778,748 (GRCm38)	missense	possibly damaging	0.83
R1535:Gm597	UTSW	1	28,777,424 (GRCm38)	missense	probably damaging	1.00
R2004:Gm597	UTSW	1	28,777,179 (GRCm38)	missense	probably damaging	1.00
R2021:Gm597	UTSW	1	28,778,153 (GRCm38)	missense	probably damaging	0.98
R2022:Gm597	UTSW	1	28,778,153 (GRCm38)	missense	probably damaging	0.98
R3115:Gm597	UTSW	1	28,776,329 (GRCm38)	missense	possibly damaging	0.92
R3615:Gm597	UTSW	1	28,776,575 (GRCm38)	missense	probably benign	0.26
R3616:Gm597	UTSW	1	28,776,575 (GRCm38)	missense	probably benign	0.26
R3862:Gm597	UTSW	1	28,777,641 (GRCm38)	missense	probably damaging	0.98
R4067:Gm597	UTSW	1	28,777,631 (GRCm38)	missense	probably damaging	0.98
R4119:Gm597	UTSW	1	28,777,973 (GRCm38)	missense	probably damaging	0.99
R4415:Gm597	UTSW	1	28,777,133 (GRCm38)	missense	probably benign	0.01
R5010:Gm597	UTSW	1	28,777,862 (GRCm38)	missense	possibly damaging	0.52
R5109:Gm597	UTSW	1	28,777,555 (GRCm38)	missense	possibly damaging	0.46
R5122:Gm597	UTSW	1	28,780,060 (GRCm38)	missense	probably benign	0.00
R5533:Gm597	UTSW	1	28,778,082 (GRCm38)	missense	probably damaging	1.00
R6085:Gm597	UTSW	1	28,778,227 (GRCm38)	missense	possibly damaging	0.55
R6116:Gm597	UTSW	1	28,778,699 (GRCm38)	missense	probably benign	0.01
R6750:Gm597	UTSW	1	28,777,414 (GRCm38)	missense	probably damaging	0.98
R6757:Gm597	UTSW	1	28,780,110 (GRCm38)	missense	probably damaging	0.98
R6774:Gm597	UTSW	1	28,776,893 (GRCm38)	missense	probably benign	0.00
R7156:Gm597	UTSW	1	28,776,767 (GRCm38)	missense	possibly damaging	0.53
R7739:Gm597	UTSW	1	28,777,608 (GRCm38)	missense	possibly damaging	0.72
R7996:Gm597	UTSW	1	28,778,406 (GRCm38)	missense	probably damaging	0.98
R8082:Gm597	UTSW	1	28,777,498 (GRCm38)	missense	probably benign	0.08
R8281:Gm597	UTSW	1	28,778,144 (GRCm38)	missense	possibly damaging	0.77
R8514:Gm597	UTSW	1	28,778,505 (GRCm38)	missense	probably damaging	1.00
R8944:Gm597	UTSW	1	28,777,074 (GRCm38)	missense	probably benign	0.00
R9042:Gm597	UTSW	1	28,776,956 (GRCm38)	missense	possibly damaging	0.72
R9101:Gm597	UTSW	1	28,776,659 (GRCm38)	missense	probably benign	0.04
R9106:Gm597	UTSW	1	28,776,894 (GRCm38)	missense	probably benign	0.00
R9173:Gm597	UTSW	1	28,777,349 (GRCm38)	missense	probably benign	0.22
R9596:Gm597	UTSW	1	28,776,607 (GRCm38)	missense	probably benign	0.07
R9632:Gm597	UTSW	1	28,778,039 (GRCm38)	missense	probably benign	0.20
R9656:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9659:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9661:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9663:Gm597	UTSW	1	28,777,455 (GRCm38)	missense	probably benign	0.02
R9710:Gm597	UTSW	1	28,778,039 (GRCm38)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GTGAATGTGAAAGTAACAACTCTGG -3'
(R):5'- CTTTGACAGTTGCAGCAGC -3'

Sequencing Primer
(F):5'- AACAACTCTGGTTACTTTCTATGTC -3'
(R):5'- CTACCTGTGGCCCTTTGTGATG -3'

Posted On

2019-09-13