Mutagenetix > Incidental Mutation

Incidental Mutation 'R9739:Gm13078'

731754

Institutional Source

Beutler Lab

Gene Symbol

Gm13078

Ensembl Gene

ENSMUSG00000046435

Gene Name

predicted gene 13078

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9739 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143719455-143729158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143728427 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 432 (F432I)

Ref Sequence

ENSEMBL: ENSMUSP00000077761 (fasta)

Gene Model

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

AlphaFold

A2AGW8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078695
AA Change: F432I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: F432I

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	T	1: 25,553,768	V313M	probably damaging	Het
Alg6	G	A	4: 99,761,958	V472I	possibly damaging	Het
Atp8b2	A	G	3: 89,946,096	V728A	probably benign	Het
Bach2	T	A	4: 32,563,042	I503N	probably damaging	Het
Bend3	T	C	10: 43,509,851	L80P	possibly damaging	Het
Casq1	T	C	1: 172,215,484	D215G	possibly damaging	Het
Ccdc175	A	T	12: 72,140,018	Y351N	probably benign	Het
Cd200r4	A	T	16: 44,820,779		probably benign	Het
Ctnnal1	T	C	4: 56,816,200	D621G	probably damaging	Het
Esco1	T	A	18: 10,594,218	H356L	probably benign	Het
Fhod1	C	T	8: 105,337,746	V191M	unknown	Het
Fhod3	T	C	18: 24,770,509	L100P	probably damaging	Het
Fkbp4	T	C	6: 128,433,765	R234G	probably benign	Het
Flnb	A	T	14: 7,935,954	K2265*	probably null	Het
Fsip2	T	C	2: 82,993,552	F6543S	possibly damaging	Het
Fyb	A	G	15: 6,640,582	N594S	probably benign	Het
Gm17019	G	A	5: 15,032,827	R38*	probably null	Het
Gm37240	A	G	3: 84,509,806		probably null	Het
Gm9195	C	T	14: 72,452,824	D1820N	probably damaging	Het
Mycbp2	A	G	14: 103,282,793	V729A	probably benign	Het
Olfr466	T	C	13: 65,152,628	S135P	probably damaging	Het
Olfr935	G	T	9: 38,995,006	S143*	probably null	Het
Pde12	T	C	14: 26,665,602	T584A	possibly damaging	Het
Pfkfb2	T	C	1: 130,697,078	Q515R	probably benign	Het
Pkhd1	T	C	1: 20,350,484	N2466S	probably damaging	Het
Plcd1	A	G	9: 119,072,127	V720A	possibly damaging	Het
Rapgef6	A	G	11: 54,622,363	T285A	probably benign	Het
Scyl3	T	C	1: 163,943,850	F255S	probably damaging	Het
Sfrp5	T	A	19: 42,199,808	M191L	probably benign	Het
Snrpf	C	T	10: 93,583,528	C66Y	probably benign	Het
Syngr2	T	A	11: 117,812,472	I38N	probably damaging	Het
Thap1	C	T	8: 26,160,962	H87Y	probably benign	Het
Tubgcp3	A	G	8: 12,649,744	Y370H	probably benign	Het
Usp17la	A	T	7: 104,861,529	N447I	possibly damaging	Het
Zfp532	C	T	18: 65,624,823	T609M	probably benign	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
R4050:Gm13078	UTSW	4	143727122	missense	probably benign	0.01
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
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'- CTGTAAGCTCATGGACTGGC -3'
(R):5'- ATGAGTCACTTGAGACCTGC -3'

Sequencing Primer
(F):5'- CTGTAAGCTCATGGACTGGCAAATC -3'
(R):5'- GAGACCTGCCTTCCATTTGTTAGAAC -3'

Posted On

2022-11-14