Mutagenetix > Incidental Mutation

Incidental Mutation 'R4224:Gm7964'

319961

Institutional Source

Beutler Lab

Gene Symbol

Gm7964

Ensembl Gene

ENSMUSG00000063902

Gene Name

predicted gene 7964

Synonyms

MMRRC Submission

041044-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R4224 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83405112-83406489 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83406030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 281 (N281K)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042280
AA Change: N281K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088990
Gene: ENSMUSG00000063902
AA Change: N281K

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.62e-11	SMART
low complexity region	238	253	N/A	INTRINSIC
low complexity region	260	276	N/A	INTRINSIC
low complexity region	282	290	N/A	INTRINSIC
low complexity region	298	310	N/A	INTRINSIC
low complexity region	340	356	N/A	INTRINSIC
KH	361	431	7.45e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000051522

SMART Domains

Protein: ENSMUSP00000095927
Gene: ENSMUSG00000063902

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.62e-11	SMART
low complexity region	262	277	N/A	INTRINSIC
low complexity region	284	300	N/A	INTRINSIC
low complexity region	306	314	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
low complexity region	364	380	N/A	INTRINSIC
KH	385	455	7.45e-16	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	T	C	15: 40,005,672 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,417 (GRCm39)	T440A	probably damaging	Het
Acat2	T	C	17: 13,181,772 (GRCm39)		probably benign	Het
Acsbg1	C	T	9: 54,523,325 (GRCm39)	R434H	possibly damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Atosa	T	A	9: 74,916,008 (GRCm39)	N209K	probably damaging	Het
Atp6v1a	C	A	16: 43,922,174 (GRCm39)	A355S	probably damaging	Het
Corin	T	C	5: 72,500,451 (GRCm39)	E391G	probably damaging	Het
Dnah11	T	G	12: 118,094,627 (GRCm39)	S814R	probably benign	Het
Fer1l4	A	C	2: 155,862,309 (GRCm39)	V1788G	probably benign	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
Ica1	T	C	6: 8,659,960 (GRCm39)	K112R	probably benign	Het
Itpr3	T	C	17: 27,326,232 (GRCm39)	V1334A	probably damaging	Het
Khdc3	C	G	9: 73,010,153 (GRCm39)	H70D	possibly damaging	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Mettl21a	G	T	1: 64,647,115 (GRCm39)	Y147*	probably null	Het
Mr1	A	T	1: 155,006,465 (GRCm39)	I294N	possibly damaging	Het
Or52z12	A	G	7: 103,233,966 (GRCm39)	T246A	probably damaging	Het
Or7e170	T	A	9: 19,794,896 (GRCm39)	Y235F	probably benign	Het
Pals1	A	G	12: 78,876,492 (GRCm39)	K479E	probably damaging	Het
Pcdhgb7	T	A	18: 37,886,856 (GRCm39)	D675E	probably benign	Het
Polr1has	T	C	17: 37,269,617 (GRCm39)		probably benign	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Rnf213	C	T	11: 119,327,649 (GRCm39)	R1879*	probably null	Het
Slc8a1	A	G	17: 81,956,781 (GRCm39)	F86L	probably damaging	Het
Spdya	G	A	17: 71,869,519 (GRCm39)	V105I	probably benign	Het
Sspo	G	T	6: 48,428,091 (GRCm39)	V313L	possibly damaging	Het
Stard9	A	G	2: 120,495,472 (GRCm39)	T116A	possibly damaging	Het
Tnnt1	T	C	7: 4,513,006 (GRCm39)	H92R	probably damaging	Het
Trim37	T	A	11: 87,107,289 (GRCm39)	C907S	probably damaging	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Tssk3	T	C	4: 129,384,392 (GRCm39)	D3G	probably benign	Het
Ubash3a	T	C	17: 31,456,902 (GRCm39)	Y521H	probably damaging	Het
Vmn1r73	T	C	7: 11,490,506 (GRCm39)	I108T	probably damaging	Het
Vmn2r14	A	G	5: 109,364,149 (GRCm39)	M589T	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Vps13b	A	G	15: 35,876,565 (GRCm39)	T2799A	probably damaging	Het
Zcchc18	A	T	X: 135,895,415 (GRCm39)	N10I	probably damaging	Het

Other mutations in Gm7964

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01665:Gm7964	APN	7	83,406,341 (GRCm39)	exon	noncoding transcript
IGL01691:Gm7964	APN	7	83,405,344 (GRCm39)	exon	noncoding transcript
IGL02232:Gm7964	APN	7	83,405,515 (GRCm39)	exon	noncoding transcript
IGL02525:Gm7964	APN	7	83,405,250 (GRCm39)	exon	noncoding transcript
R0512:Gm7964	UTSW	7	83,405,158 (GRCm39)	exon	noncoding transcript
R0543:Gm7964	UTSW	7	83,405,602 (GRCm39)	exon	noncoding transcript
R0723:Gm7964	UTSW	7	83,405,374 (GRCm39)	exon	noncoding transcript
R1977:Gm7964	UTSW	7	83,406,560 (GRCm39)	missense	possibly damaging	0.56
R2397:Gm7964	UTSW	7	83,406,321 (GRCm39)	exon	noncoding transcript
R3623:Gm7964	UTSW	7	83,405,629 (GRCm39)	missense	probably benign	0.02
R3769:Gm7964	UTSW	7	83,405,338 (GRCm39)	missense	probably damaging	0.98
R4222:Gm7964	UTSW	7	83,406,030 (GRCm39)	missense	probably damaging	1.00
R4796:Gm7964	UTSW	7	83,405,109 (GRCm39)	splice site	probably null
R4869:Gm7964	UTSW	7	83,405,350 (GRCm39)	missense	possibly damaging	0.51
R5086:Gm7964	UTSW	7	83,406,560 (GRCm39)	missense	possibly damaging	0.56
R5944:Gm7964	UTSW	7	83,405,743 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGATGTTTGATGACCGCCGAG -3'
(R):5'- ATCACCATATGAGCCACGGC -3'

Sequencing Primer
(F):5'- AGGACGACCTGTGGGATTC -3'
(R):5'- GGCCCCCTGCATAAGAATAGTC -3'

Posted On

2015-06-12