Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Gm13078'

314099

Institutional Source

Beutler Lab

Gene Symbol

Gm13078

Ensembl Gene

ENSMUSG00000046435

Gene Name

predicted gene 13078

Synonyms

MMRRC Submission

040968-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143719455-143729158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143727122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 267 (S267P)

Ref Sequence

ENSEMBL: ENSMUSP00000077761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078695]

AlphaFold

A2AGW8

Predicted Effect

probably benign
Transcript: ENSMUST00000078695
AA Change: S267P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: S267P

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	4e-12	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,944,992	D473G	probably damaging	Het
9530053A07Rik	T	C	7: 28,152,985	V1311A	possibly damaging	Het
Abca1	T	A	4: 53,044,144	Q1826L	probably damaging	Het
Apob	G	A	12: 8,015,390	V4087I	probably benign	Het
Atp10b	G	A	11: 43,259,536	A1354T	probably benign	Het
Baz1a	A	G	12: 54,929,619	V424A	probably benign	Het
Cdc20b	G	A	13: 113,064,285	D180N	probably benign	Het
Cep57l1	G	T	10: 41,729,360	R130S	probably damaging	Het
Ddb1	A	G	19: 10,627,807	D1053G	probably benign	Het
Ddx39	T	A	8: 83,722,234	M246K	probably benign	Het
Dip2a	G	A	10: 76,278,607	T1013M	probably damaging	Het
Edar	G	T	10: 58,609,947	T265N	possibly damaging	Het
Fam207a	T	C	10: 77,514,330	R75G	possibly damaging	Het
Fam208b	A	G	13: 3,573,507	S2148P	probably benign	Het
Gbp8	T	A	5: 105,031,238	I132F	probably damaging	Het
Gga1	A	G	15: 78,891,491	D382G	probably benign	Het
Ggps1	T	C	13: 14,053,699	K300E	probably benign	Het
Gm10518	C	A	1: 179,803,813		probably benign	Het
Gm8074	G	A	9: 78,322,336		noncoding transcript	Het
H2-Eb1	T	A	17: 34,314,368	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,755,773	S95G	probably damaging	Het
Hnf1a	T	A	5: 114,970,574	N91Y	probably damaging	Het
Ints10	C	T	8: 68,827,351	S710F	probably damaging	Het
Kazn	C	T	4: 142,106,904	E614K	unknown	Het
Kif26a	T	A	12: 112,179,916	M1812K	probably benign	Het
Lmo7	A	T	14: 101,902,277	K488*	probably null	Het
Mad1l1	A	G	5: 140,132,816	S457P	probably damaging	Het
Met	A	G	6: 17,533,984	T645A	probably benign	Het
Mpp4	T	C	1: 59,146,744		probably null	Het
Mycl	A	T	4: 122,996,839		probably null	Het
Ncbp1	G	A	4: 46,147,483	R110H	probably damaging	Het
Nfasc	G	T	1: 132,610,305		probably benign	Het
Nup35	A	G	2: 80,655,976	I212V	probably benign	Het
Olfr1181	A	G	2: 88,423,623	M134T	probably damaging	Het
Olfr1373	T	G	11: 52,145,134	Y132S	probably damaging	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Pcgf5	G	A	19: 36,442,911	S181N	probably damaging	Het
Plk2	C	T	13: 110,399,866	T617I	probably damaging	Het
Polq	A	T	16: 37,092,820		probably null	Het
Ppp1r1a	A	G	15: 103,532,454	L92P	probably damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Prune1	T	C	3: 95,262,231	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,272,643		probably null	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sall3	G	A	18: 80,971,482	A1005V	probably benign	Het
Samd15	T	G	12: 87,200,632	N30K	probably benign	Het
Scn8a	A	T	15: 101,013,413	K905*	probably null	Het
Scrib	G	A	15: 76,051,473	R1245W	possibly damaging	Het
Skint4	C	T	4: 112,124,614	S260L	probably benign	Het
Slc29a2	A	T	19: 5,029,453	M339L	possibly damaging	Het
Spire1	G	T	18: 67,529,031		probably null	Het
Synpo2	T	C	3: 123,114,278	D463G	possibly damaging	Het
Taf4	C	A	2: 179,932,012	G688C	probably damaging	Het
Tpte	T	A	8: 22,365,984	V600E	probably damaging	Het
Ttn	A	G	2: 76,821,166	V10953A	probably benign	Het
Vav2	T	C	2: 27,288,679	Y333C	probably benign	Het
Vav2	A	G	2: 27,291,403	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,436,988	M1R	probably null	Het
Zfp26	G	A	9: 20,442,229	P88L	probably benign	Het
Zfp324	T	C	7: 12,970,867	F328L	probably damaging	Het

Other mutations in Gm13078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Gm13078	APN	4	143727015	missense	probably damaging	1.00
IGL01122:Gm13078	APN	4	143728401	missense	probably benign	0.13
IGL02314:Gm13078	APN	4	143728442	missense	probably benign	0.00
IGL03089:Gm13078	APN	4	143726133	missense	probably benign	0.43
IGL03338:Gm13078	APN	4	143726742	missense	probably benign	0.01
R0233:Gm13078	UTSW	4	143726063	missense	possibly damaging	0.71
R0233:Gm13078	UTSW	4	143726063	missense	possibly damaging	0.71
R0349:Gm13078	UTSW	4	143727059	missense	probably benign	0.00
R0681:Gm13078	UTSW	4	143728052	missense	probably benign
R0963:Gm13078	UTSW	4	143727108	missense	possibly damaging	0.50
R1114:Gm13078	UTSW	4	143726855	missense	probably benign	0.01
R2070:Gm13078	UTSW	4	143726902	nonsense	probably null
R2475:Gm13078	UTSW	4	143726825	missense	probably benign	0.14
R3824:Gm13078	UTSW	4	143726685	missense	probably benign	0.00
R4125:Gm13078	UTSW	4	143726280	nonsense	probably null
R4273:Gm13078	UTSW	4	143726846	nonsense	probably null
R4280:Gm13078	UTSW	4	143726022	missense	possibly damaging	0.94
R4921:Gm13078	UTSW	4	143728326	missense	possibly damaging	0.95
R5223:Gm13078	UTSW	4	143728021	missense	probably benign	0.00
R7256:Gm13078	UTSW	4	143726279	missense	probably benign	0.23
R7640:Gm13078	UTSW	4	143726706	missense	probably benign	0.00
R7666:Gm13078	UTSW	4	143728515	missense	probably benign	0.00
R7683:Gm13078	UTSW	4	143726714	nonsense	probably null
R7981:Gm13078	UTSW	4	143726882	missense	probably benign	0.01
R8856:Gm13078	UTSW	4	143726733	missense	probably benign	0.33
R9050:Gm13078	UTSW	4	143726759	missense	probably benign	0.03
R9739:Gm13078	UTSW	4	143728427	missense	possibly damaging	0.94
R9757:Gm13078	UTSW	4	143728422	missense	probably benign	0.00
Z1088:Gm13078	UTSW	4	143727033	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGTGATGCAGCCTCAATCC -3'
(R):5'- GTGCTAAGCTCACATCCATATAAAG -3'

Sequencing Primer
(F):5'- GATGCAGCCTCAATCCAGGAATTG -3'
(R):5'- CATCCATATAAAGTTAACACTGGCTG -3'

Posted On

2015-04-30