Mutagenetix > Incidental Mutation

Incidental Mutation 'R6116:Gm597'

485104

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

044265-MU

Accession Numbers

Essential gene?

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

Stock #

R6116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28778699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 84 (A84V)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably benign
Transcript: ENSMUST00000059937
AA Change: A84V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: A84V

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 9,012,963 (GRCm38)		probably benign	Het
Apc	A	T	18: 34,316,455 (GRCm38)	I2101F	probably damaging	Het
Bpifa3	G	A	2: 154,133,713 (GRCm38)	V68I	possibly damaging	Het
Csmd1	T	A	8: 16,211,850 (GRCm38)	I878F	probably damaging	Het
Cyp2c67	A	T	19: 39,617,435 (GRCm38)	M339K	probably damaging	Het
Dock3	A	G	9: 106,931,962 (GRCm38)	Y1321H	probably damaging	Het
Dsc1	G	T	18: 20,097,299 (GRCm38)	D316E	probably benign	Het
Eno3	C	T	11: 70,661,575 (GRCm38)	T351M	possibly damaging	Het
Erbb2	T	A	11: 98,427,399 (GRCm38)	F487Y	probably damaging	Het
Exosc10	T	C	4: 148,573,353 (GRCm38)	L652P	probably benign	Het
Glmn	A	T	5: 107,557,340 (GRCm38)	M470K	probably damaging	Het
Gm15446	T	A	5: 109,943,036 (GRCm38)	C385S	probably damaging	Het
Hspa8	A	G	9: 40,804,975 (GRCm38)	E581G	probably damaging	Het
Igfn1	T	C	1: 135,970,467 (GRCm38)	D787G	probably benign	Het
Igkv12-44	T	C	6: 69,814,854 (GRCm38)	T42A	possibly damaging	Het
Itsn2	T	C	12: 4,629,939 (GRCm38)		probably benign	Het
Jade2	T	C	11: 51,835,633 (GRCm38)	E84G	probably damaging	Het
Lpar3	T	A	3: 146,240,597 (GRCm38)	M10K	possibly damaging	Het
Lpin2	A	G	17: 71,243,930 (GRCm38)	D695G	probably damaging	Het
Mosmo	T	A	7: 120,726,195 (GRCm38)	L7H	probably damaging	Het
Ms4a8a	C	T	19: 11,081,072 (GRCm38)	A9T	unknown	Het
Myb	T	C	10: 21,154,754 (GRCm38)	D48G	probably damaging	Het
Neurod6	T	C	6: 55,678,791 (GRCm38)	Y287C	probably damaging	Het
Olfr878	A	G	9: 37,918,659 (GRCm38)	M1V	probably null	Het
Olfr96	A	G	17: 37,225,568 (GRCm38)	T148A	probably benign	Het
Olr1	T	A	6: 129,499,984 (GRCm38)	D106V	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm38)		probably benign	Het
Plch1	C	T	3: 63,702,023 (GRCm38)	R912H	probably damaging	Het
Ppfia3	T	C	7: 45,354,703 (GRCm38)	Y505C	probably damaging	Het
Sdk2	T	A	11: 113,854,364 (GRCm38)	I702F	probably damaging	Het
Slc16a11	T	C	11: 70,215,436 (GRCm38)	F119L	probably benign	Het
Slc2a10	A	C	2: 165,517,703 (GRCm38)	T496P	probably damaging	Het
Slc7a2	T	C	8: 40,900,169 (GRCm38)	Y181H	probably damaging	Het
Stab2	G	T	10: 86,907,190 (GRCm38)	P1185Q	probably damaging	Het
Tcf7l2	T	A	19: 55,919,014 (GRCm38)	S335R	probably damaging	Het
Ttc41	G	A	10: 86,759,088 (GRCm38)		probably null	Het
Vmn2r32	A	T	7: 7,464,093 (GRCm38)	I812N	probably damaging	Het
Wdr24	C	T	17: 25,824,605 (GRCm38)	H134Y	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
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'- TCTGGAGTTGCAGACAGTAGG -3'
(R):5'- GGGGATTTTATGTCATCCATGAGC -3'

Sequencing Primer
(F):5'- GCACAGTTGAATCAGTGAACTC -3'
(R):5'- TTATGTCATCCATGAGCACACAGAG -3'

Posted On

2017-08-16