Mutagenetix > Incidental Mutation

Incidental Mutation 'R1079:Gm4922'

85787

Institutional Source

Beutler Lab

Gene Symbol

Gm4922

Ensembl Gene

ENSMUSG00000044624

Gene Name

predicted gene 4922

Synonyms

MMRRC Submission

039165-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18655475-18662541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18660086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 212 (Y212F)

Ref Sequence

ENSEMBL: ENSMUSP00000149756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055107] [ENSMUST00000216654]

AlphaFold

Q8C0N0

Predicted Effect

probably damaging
Transcript: ENSMUST00000055107
AA Change: Y212F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055273
Gene: ENSMUSG00000044624
AA Change: Y212F

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
S_TKc	28	275	1.92e-75	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215162

Predicted Effect

probably damaging
Transcript: ENSMUST00000216654
AA Change: Y212F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	C	7: 30,399,209 (GRCm39)	M1T	probably null	Het
Adam25	T	C	8: 41,208,513 (GRCm39)	V593A	possibly damaging	Het
Agrn	C	T	4: 156,261,682 (GRCm39)	C536Y	probably damaging	Het
Amigo3	T	C	9: 107,931,051 (GRCm39)	M158T	probably benign	Het
Arsa	G	A	15: 89,358,428 (GRCm39)		probably benign	Het
Baz1a	T	A	12: 54,941,785 (GRCm39)	I1474L	possibly damaging	Het
Cfap144	A	G	11: 58,692,620 (GRCm39)	Y36H	probably benign	Het
Cfap65	A	G	1: 74,944,872 (GRCm39)	V1455A	probably damaging	Het
Cfap65	G	A	1: 74,941,606 (GRCm39)	A1776V	probably damaging	Het
Cnot6	G	T	11: 49,575,930 (GRCm39)	D176E	probably benign	Het
Crot	A	T	5: 9,043,504 (GRCm39)		probably null	Het
Cryba2	A	T	1: 74,929,717 (GRCm39)	V140E	probably damaging	Het
Dennd4b	G	A	3: 90,178,485 (GRCm39)	R516K	probably benign	Het
Dst	C	A	1: 34,225,944 (GRCm39)	T1697N	possibly damaging	Het
Eftud2	G	T	11: 102,730,870 (GRCm39)	Y837*	probably null	Het
Evpl	G	T	11: 116,120,894 (GRCm39)	T447K	possibly damaging	Het
Fndc3a	A	T	14: 72,827,247 (GRCm39)	M146K	possibly damaging	Het
Folh1	G	T	7: 86,421,089 (GRCm39)	T80K	probably damaging	Het
Gtf2i	T	G	5: 134,271,748 (GRCm39)		probably benign	Het
Hipk3	A	G	2: 104,302,043 (GRCm39)	F50L	probably benign	Het
Ifit1bl2	T	A	19: 34,596,885 (GRCm39)	T244S	probably benign	Het
Ikzf2	T	C	1: 69,578,264 (GRCm39)	D341G	possibly damaging	Het
Kif3a	G	C	11: 53,461,408 (GRCm39)	V17L	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lzts2	T	A	19: 45,011,983 (GRCm39)	N137K	probably damaging	Het
Mphosph8	T	A	14: 56,911,716 (GRCm39)	D246E	probably damaging	Het
Myh14	T	C	7: 44,279,426 (GRCm39)	E918G	probably damaging	Het
N6amt1	T	C	16: 87,153,086 (GRCm39)	V52A	probably damaging	Het
Npr2	A	C	4: 43,643,654 (GRCm39)	T561P	probably damaging	Het
Nudt12	G	A	17: 59,318,032 (GRCm39)		probably benign	Het
Or10ad1	A	C	15: 98,106,223 (GRCm39)	V14G	probably damaging	Het
Or5w8	A	G	2: 87,687,699 (GRCm39)	Y60C	probably damaging	Het
Or6n2	A	T	1: 173,897,032 (GRCm39)	H56L	possibly damaging	Het
Or8k22	T	A	2: 86,163,185 (GRCm39)	R172W	probably damaging	Het
Pan2	A	G	10: 128,154,107 (GRCm39)	T1050A	probably damaging	Het
Rad17	G	T	13: 100,770,407 (GRCm39)	D213E	probably benign	Het
Sall2	T	A	14: 52,550,660 (GRCm39)	H843L	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3e	A	T	5: 14,275,669 (GRCm39)	N258I	probably benign	Het
Siglec1	G	A	2: 130,921,297 (GRCm39)	R625*	probably null	Het
Slc15a3	T	C	19: 10,833,344 (GRCm39)	S454P	probably benign	Het
Sp110	G	A	1: 85,516,825 (GRCm39)		probably benign	Het
Spatc1l	T	C	10: 76,399,741 (GRCm39)	S88P	probably damaging	Het
Ssh3	A	C	19: 4,316,577 (GRCm39)	L143R	probably damaging	Het
Ttn	C	T	2: 76,587,340 (GRCm39)		probably benign	Het
Vps35	A	G	8: 86,005,683 (GRCm39)	L306S	probably damaging	Het
Zfp729a	T	C	13: 67,767,794 (GRCm39)	I812V	possibly damaging	Het

Other mutations in Gm4922

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Gm4922	APN	10	18,659,795 (GRCm39)	missense	probably benign	0.20
IGL01818:Gm4922	APN	10	18,660,701 (GRCm39)	missense	unknown
IGL01931:Gm4922	APN	10	18,660,042 (GRCm39)	missense	probably benign	0.01
IGL02021:Gm4922	APN	10	18,660,225 (GRCm39)	missense	probably damaging	1.00
IGL02573:Gm4922	APN	10	18,659,423 (GRCm39)	missense	probably benign	0.05
IGL03305:Gm4922	APN	10	18,659,232 (GRCm39)	nonsense	probably null
R0149:Gm4922	UTSW	10	18,659,289 (GRCm39)	missense	probably benign	0.10
R0361:Gm4922	UTSW	10	18,659,289 (GRCm39)	missense	probably benign	0.10
R0564:Gm4922	UTSW	10	18,659,813 (GRCm39)	missense	possibly damaging	0.66
R1163:Gm4922	UTSW	10	18,659,469 (GRCm39)	missense	possibly damaging	0.83
R1164:Gm4922	UTSW	10	18,659,469 (GRCm39)	missense	possibly damaging	0.83
R1398:Gm4922	UTSW	10	18,659,496 (GRCm39)	missense	possibly damaging	0.65
R1458:Gm4922	UTSW	10	18,659,640 (GRCm39)	nonsense	probably null
R1867:Gm4922	UTSW	10	18,660,211 (GRCm39)	missense	possibly damaging	0.73
R1994:Gm4922	UTSW	10	18,659,388 (GRCm39)	missense	probably benign	0.10
R2146:Gm4922	UTSW	10	18,659,264 (GRCm39)	missense	probably benign
R2437:Gm4922	UTSW	10	18,659,829 (GRCm39)	missense	probably benign	0.00
R3551:Gm4922	UTSW	10	18,660,244 (GRCm39)	missense	probably benign	0.01
R3939:Gm4922	UTSW	10	18,660,362 (GRCm39)	missense	probably damaging	1.00
R4580:Gm4922	UTSW	10	18,659,432 (GRCm39)	missense	probably benign	0.00
R4602:Gm4922	UTSW	10	18,660,007 (GRCm39)	nonsense	probably null
R4704:Gm4922	UTSW	10	18,660,567 (GRCm39)	missense	probably benign	0.20
R4790:Gm4922	UTSW	10	18,659,916 (GRCm39)	missense	possibly damaging	0.58
R5478:Gm4922	UTSW	10	18,659,885 (GRCm39)	missense	probably benign
R5510:Gm4922	UTSW	10	18,659,745 (GRCm39)	missense	probably benign	0.00
R5694:Gm4922	UTSW	10	18,660,035 (GRCm39)	missense	possibly damaging	0.76
R6080:Gm4922	UTSW	10	18,660,500 (GRCm39)	missense	probably damaging	1.00
R6869:Gm4922	UTSW	10	18,660,263 (GRCm39)	missense	probably damaging	1.00
R6923:Gm4922	UTSW	10	18,659,616 (GRCm39)	missense	probably damaging	1.00
R7667:Gm4922	UTSW	10	18,660,096 (GRCm39)	missense	probably damaging	1.00
R8198:Gm4922	UTSW	10	18,659,340 (GRCm39)	missense	probably benign	0.00
R8270:Gm4922	UTSW	10	18,659,760 (GRCm39)	missense	probably benign	0.00
R8310:Gm4922	UTSW	10	18,659,536 (GRCm39)	missense	probably benign	0.09
R9454:Gm4922	UTSW	10	18,660,329 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTTGCGTTTGTTGCCAATAAC -3'
(R):5'- GGCACACAGCTACATAATCGAGTCC -3'

Sequencing Primer
(F):5'- TTCTGACAAGGTGGACCCTACA -3'
(R):5'- GTGTTGTTCACAGAGACCTAAAGC -3'

Posted On

2013-11-18