Mutagenetix > Incidental Mutation

Incidental Mutation 'R1036:Gm597'

93762

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

039135-MU

Accession Numbers

Essential gene?

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

Stock #

R1036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28777802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 383 (L383P)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably benign
Transcript: ENSMUST00000059937
AA Change: L383P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: L383P

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.2%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 76,876,283 (GRCm38)	T174M	probably damaging	Het
Abca12	A	G	1: 71,263,410 (GRCm38)		probably null	Het
Abcg1	C	A	17: 31,111,269 (GRCm38)	Q515K	probably damaging	Het
Acaa1b	A	T	9: 119,150,816 (GRCm38)		probably benign	Het
Adamts3	T	C	5: 89,696,093 (GRCm38)		probably benign	Het
Aoah	A	C	13: 20,840,169 (GRCm38)		probably benign	Het
Arhgap10	G	A	8: 77,310,769 (GRCm38)	P610L	probably damaging	Het
Casq2	G	T	3: 102,142,215 (GRCm38)	A295S	probably damaging	Het
Col6a4	A	G	9: 106,068,198 (GRCm38)	Y906H	probably damaging	Het
Dcaf13	T	A	15: 39,143,718 (GRCm38)	I349N	probably damaging	Het
Ecd	A	G	14: 20,333,318 (GRCm38)		probably benign	Het
Enpep	C	A	3: 129,284,109 (GRCm38)	V620L	probably damaging	Het
Fbln7	A	G	2: 128,893,895 (GRCm38)	S268G	possibly damaging	Het
Fcho1	C	T	8: 71,712,560 (GRCm38)	A418T	probably benign	Het
Gatd1	T	A	7: 141,409,132 (GRCm38)	T205S	probably damaging	Het
Gbe1	T	A	16: 70,528,887 (GRCm38)	V604E	probably damaging	Het
Ghsr	T	A	3: 27,374,720 (GRCm38)	I298N	probably damaging	Het
Glis1	T	C	4: 107,632,264 (GRCm38)	Y683H	probably benign	Het
Gpr162	T	A	6: 124,860,860 (GRCm38)	I276F	probably damaging	Het
Hps6	A	G	19: 46,004,241 (GRCm38)	T206A	probably benign	Het
Kcnk10	T	C	12: 98,496,186 (GRCm38)		probably benign	Het
Krt90	A	G	15: 101,562,716 (GRCm38)	V37A	probably benign	Het
Lmbr1	T	C	5: 29,258,747 (GRCm38)	K160E	probably damaging	Het
Nif3l1	A	G	1: 58,447,873 (GRCm38)	T73A	probably damaging	Het
Nup107	A	T	10: 117,757,294 (GRCm38)	D826E	probably damaging	Het
Nup210l	C	T	3: 90,192,940 (GRCm38)		probably benign	Het
Omd	A	G	13: 49,589,971 (GRCm38)	R166G	probably damaging	Het
Plekha4	T	C	7: 45,549,976 (GRCm38)		probably benign	Het
Ptgdr	A	G	14: 44,859,115 (GRCm38)	S47P	probably damaging	Het
Sec24c	A	G	14: 20,692,897 (GRCm38)	I940V	probably benign	Het
Shkbp1	A	G	7: 27,345,296 (GRCm38)	S457P	possibly damaging	Het
Skint1	T	C	4: 112,019,296 (GRCm38)	V138A	possibly damaging	Het
Slc38a9	A	G	13: 112,701,659 (GRCm38)		probably benign	Het
Srsf7	A	T	17: 80,205,837 (GRCm38)		probably benign	Het
Stau1	T	C	2: 166,951,315 (GRCm38)	K300R	probably damaging	Het
Stox1	A	T	10: 62,667,895 (GRCm38)	I127K	probably damaging	Het
Sympk	G	A	7: 19,048,453 (GRCm38)	R832Q	probably damaging	Het
Usp3	A	G	9: 66,530,231 (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
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
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'- CCTCTGGAAAAGAGTGTCGCAGTC -3'
(R):5'- CCCTGCCCATTAAAGCTATCCAGTC -3'

Sequencing Primer
(F):5'- CTGGCAGAATGCACAGTTTC -3'
(R):5'- AAAGCTATCCAGTCAGTCTTCATC -3'

Posted On

2014-01-05