Mutagenetix > Incidental Mutation

Incidental Mutation 'R5109:Gm597'

393707

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

042697-MU

Accession Numbers

Essential gene?

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

Stock #

R5109 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28777555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 465 (I465M)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059937
AA Change: I465M

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: I465M

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

95% (78/82)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	C	5: 90,243,536 (GRCm38)	S1841G	possibly damaging	Het
Anxa10	T	C	8: 62,063,059 (GRCm38)	E193G	possibly damaging	Het
Ap3d1	T	C	10: 80,709,450 (GRCm38)	S1056G	probably benign	Het
Apbb1	T	C	7: 105,565,035 (GRCm38)	N62D	probably damaging	Het
Apobec2	T	A	17: 48,422,996 (GRCm38)	Y214F	probably damaging	Het
Apobec2	A	T	17: 48,422,994 (GRCm38)	Y215N	probably damaging	Het
Appl2	A	T	10: 83,601,007 (GRCm38)	V630E	probably benign	Het
Bud23	T	C	5: 135,061,023 (GRCm38)		probably benign	Het
Cacna1b	A	T	2: 24,690,785 (GRCm38)	M683K	possibly damaging	Het
Cbfa2t2	T	A	2: 154,531,373 (GRCm38)	D187E	probably damaging	Het
Cfap54	G	T	10: 92,937,891 (GRCm38)	F96L	probably benign	Het
Crebbp	A	G	16: 4,088,431 (GRCm38)		probably benign	Het
Crocc	C	T	4: 141,028,411 (GRCm38)	R1102Q	probably damaging	Het
Dcaf12	T	C	4: 41,298,329 (GRCm38)	D273G	possibly damaging	Het
Dchs1	T	C	7: 105,765,014 (GRCm38)	T865A	probably benign	Het
Dhfr	A	T	13: 92,355,280 (GRCm38)	I8F	probably damaging	Het
Dnaja2	A	T	8: 85,553,258 (GRCm38)	F97L	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Doc2b	T	C	11: 75,777,141 (GRCm38)	D261G	probably benign	Het
Ear1	A	G	14: 43,819,028 (GRCm38)	Y128H	probably benign	Het
Elac2	T	A	11: 64,992,316 (GRCm38)	I171N	probably damaging	Het
Entpd3	C	A	9: 120,566,314 (GRCm38)	N454K	possibly damaging	Het
Flrt3	A	G	2: 140,660,743 (GRCm38)	S322P	possibly damaging	Het
Fn1	C	T	1: 71,649,235 (GRCm38)	C170Y	probably damaging	Het
Gabbr1	T	A	17: 37,072,028 (GRCm38)		probably benign	Het
Gm7247	T	G	14: 51,365,317 (GRCm38)	S37A	probably damaging	Het
Gm8775	T	A	3: 4,211,948 (GRCm38)		noncoding transcript	Het
Gprc5c	G	T	11: 114,864,267 (GRCm38)	V257L	possibly damaging	Het
Gria4	A	C	9: 4,472,168 (GRCm38)	N440K	probably damaging	Het
H2-T22	T	A	17: 36,039,221 (GRCm38)	R334*	probably null	Het
Ift172	T	C	5: 31,265,986 (GRCm38)	D817G	probably benign	Het
Igkv9-124	T	A	6: 67,942,364 (GRCm38)	R21S	possibly damaging	Het
Itgam	G	A	7: 128,113,218 (GRCm38)	V846I	probably benign	Het
Kif11	T	A	19: 37,384,615 (GRCm38)	M94K	possibly damaging	Het
Krtcap2	T	C	3: 89,246,778 (GRCm38)	V2A	probably benign	Het
Lrrc47	A	G	4: 154,017,476 (GRCm38)	D400G	probably damaging	Het
Man2a1	T	A	17: 64,752,448 (GRCm38)	V1110E	probably benign	Het
Mfsd9	T	A	1: 40,774,205 (GRCm38)	I317F	probably damaging	Het
Mindy4	A	T	6: 55,216,745 (GRCm38)		probably null	Het
Mrpl53	A	G	6: 83,109,560 (GRCm38)	T82A	probably damaging	Het
Myo3b	A	G	2: 70,095,293 (GRCm38)	K35E	possibly damaging	Het
Nalcn	A	G	14: 123,278,238 (GRCm38)	V1717A	possibly damaging	Het
Ncoa2	A	G	1: 13,186,846 (GRCm38)	V143A	probably damaging	Het
Ndufa9	A	C	6: 126,832,557 (GRCm38)		probably null	Het
Odf3	A	T	7: 140,849,548 (GRCm38)	S197C	probably benign	Het
Olfr1014	G	A	2: 85,777,324 (GRCm38)	V247M	probably damaging	Het
Olfr1121	A	G	2: 87,371,534 (GRCm38)	M1V	probably null	Het
Olfr1130	G	A	2: 87,607,411 (GRCm38)	A8T	possibly damaging	Het
Olfr1130	G	A	2: 87,607,975 (GRCm38)	G196R	possibly damaging	Het
Olfr181	A	G	16: 58,926,059 (GRCm38)	S171P	probably benign	Het
Olfr476	T	C	7: 107,967,897 (GRCm38)	S167P	probably benign	Het
Olfr771	T	C	10: 129,160,237 (GRCm38)	Y249C	probably damaging	Het
Olfr846	A	T	9: 19,361,142 (GRCm38)	I71N	probably damaging	Het
Pde4b	G	T	4: 102,601,544 (GRCm38)	A466S	probably damaging	Het
Pfkfb3	A	T	2: 11,486,351 (GRCm38)		probably benign	Het
Ppp1r21	A	G	17: 88,558,840 (GRCm38)	K355E	probably damaging	Het
Psme4	T	A	11: 30,791,095 (GRCm38)	Y90*	probably null	Het
Rbms1	G	A	2: 60,781,940 (GRCm38)	L161F	probably damaging	Het
Rdh16f2	A	G	10: 127,866,803 (GRCm38)	D83G	probably damaging	Het
Sec16b	C	T	1: 157,564,791 (GRCm38)	R910*	probably null	Het
Sema4c	CTGGGCTT	C	1: 36,552,300 (GRCm38)		probably null	Het
Stambp	A	G	6: 83,563,821 (GRCm38)		probably null	Het
Tcf21	T	C	10: 22,819,659 (GRCm38)	N82S	probably damaging	Het
Tlr2	A	T	3: 83,837,723 (GRCm38)	V351D	probably damaging	Het
Tmem39a	G	A	16: 38,590,964 (GRCm38)	G359D	probably damaging	Het
Ttc23l	G	T	15: 10,551,550 (GRCm38)	T30K	possibly damaging	Het
Vmn2r17	C	A	5: 109,429,476 (GRCm38)	F464L	probably benign	Het
Vmn2r49	T	A	7: 9,976,277 (GRCm38)	T843S	probably benign	Het
Vmn2r7	T	C	3: 64,690,667 (GRCm38)	D823G	probably null	Het
Wrnip1	T	A	13: 32,816,336 (GRCm38)	L442Q	probably damaging	Het
Zbtb38	G	T	9: 96,687,009 (GRCm38)	S674Y	probably damaging	Het
Zfp639	T	G	3: 32,520,436 (GRCm38)		probably null	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
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
R7365:Gm597	UTSW	1	28,780,152 (GRCm38)	missense	probably benign	0.04
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'- CCCCTTGATCTGAATGGGAC -3'
(R):5'- TCCTCAGTGTTAGTGTCGAAG -3'

Sequencing Primer
(F):5'- AATGGGACTTTGAGGGCCC -3'
(R):5'- GAGACATGCTGTCCACTA -3'

Posted On

2016-06-15