Mutagenetix > Incidental Mutation

Incidental Mutation 'R7950:Gm5624'

649518

Institutional Source

Beutler Lab

Gene Symbol

Gm5624

Ensembl Gene

ENSMUSG00000092165

Gene Name

predicted gene 5624

Synonyms

MMRRC Submission

045995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R7950 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44794603-44865381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44798190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 139 (Y139H)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178184] [ENSMUST00000227882] [ENSMUST00000228629]

AlphaFold

J3QK24

Predicted Effect

SMART Domains

Protein: ENSMUSP00000126636
Gene: ENSMUSG00000092165
AA Change: Y139H

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	137	1.2e-27	PFAM
coiled coil region	152	185	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178184
AA Change: Y96H

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136815
Gene: ENSMUSG00000092165
AA Change: Y96H

Domain	Start	End	E-Value	Type
Pfam:Takusan	13	93	2.2e-27	PFAM
coiled coil region	109	142	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227882
AA Change: Y95H

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000228629

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	G	A	17: 43,762,048 (GRCm39)	V1248M	probably damaging	Het
Alb	T	C	5: 90,620,323 (GRCm39)	S478P	probably damaging	Het
Arhgap17	A	G	7: 122,886,039 (GRCm39)	S698P	probably benign	Het
Arhgef5	A	G	6: 43,250,859 (GRCm39)	T537A	possibly damaging	Het
Arl6	A	T	16: 59,439,094 (GRCm39)		probably null	Het
Atp13a4	A	T	16: 29,268,735 (GRCm39)	W540R		Het
Birc6	A	T	17: 74,900,095 (GRCm39)	D1091V	probably damaging	Het
Bnc1	A	G	7: 81,623,250 (GRCm39)	V659A	probably benign	Het
C130074G19Rik	T	C	1: 184,606,571 (GRCm39)		probably null	Het
C1ql4	T	A	15: 98,982,693 (GRCm39)	H220L	probably benign	Het
Cacna1s	A	G	1: 136,028,363 (GRCm39)	N1147S	probably benign	Het
Cc2d2a	T	C	5: 43,852,638 (GRCm39)		probably null	Het
Ccl1	T	A	11: 82,070,519 (GRCm39)	I18L	probably benign	Het
Cfap410	C	T	10: 77,815,601 (GRCm39)	T31I	probably damaging	Het
Ecel1	A	T	1: 87,075,991 (GRCm39)	Y729N	probably damaging	Het
Epha4	T	A	1: 77,483,833 (GRCm39)	I59F	probably damaging	Het
Filip1l	A	G	16: 57,390,074 (GRCm39)	K221E	probably damaging	Het
Flnc	A	G	6: 29,456,381 (GRCm39)	E2193G	possibly damaging	Het
Galnt10	C	G	11: 57,674,549 (GRCm39)	P513A	probably damaging	Het
Golgb1	A	C	16: 36,735,786 (GRCm39)	I1719L	probably benign	Het
Hsf1	T	C	15: 76,382,393 (GRCm39)	S255P	probably benign	Het
Ighv2-2	T	C	12: 113,551,914 (GRCm39)	D108G	probably damaging	Het
Iho1	T	C	9: 108,282,870 (GRCm39)	T273A	probably benign	Het
Kbtbd3	C	T	9: 4,316,878 (GRCm39)	Q10*	probably null	Het
Kcnh2	C	T	5: 24,538,034 (GRCm39)	V110M	probably benign	Het
Magi3	A	C	3: 103,924,005 (GRCm39)	L1112W	probably damaging	Het
Malrd1	T	A	2: 16,132,879 (GRCm39)	D1933E	unknown	Het
Mki67	G	A	7: 135,301,453 (GRCm39)	R1194*	probably null	Het
Nap1l1	T	C	10: 111,328,769 (GRCm39)	Y233H	probably damaging	Het
Napsa	A	G	7: 44,234,758 (GRCm39)	I298V	probably benign	Het
Nkx6-1	A	T	5: 101,811,465 (GRCm39)	S212R	probably damaging	Het
Nlrc4	A	T	17: 74,752,610 (GRCm39)	I591N	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,431 (GRCm39)	I35T	possibly damaging	Het
Orc2	T	C	1: 58,506,827 (GRCm39)	D503G	possibly damaging	Het
Osbp	T	A	19: 11,955,612 (GRCm39)	S343T	probably benign	Het
Pcdha6	T	G	18: 37,102,479 (GRCm39)	D557E	probably damaging	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,101,876 (GRCm39)		probably benign	Het
Ppdpf	A	G	2: 180,829,650 (GRCm39)	Y35C	probably benign	Het
Scrn2	T	A	11: 96,921,755 (GRCm39)	L75Q	probably damaging	Het
Scube3	G	A	17: 28,390,200 (GRCm39)	V955I	probably benign	Het
Slc1a1	T	C	19: 28,889,161 (GRCm39)	V478A	probably benign	Het
Slc4a4	A	G	5: 89,206,137 (GRCm39)		probably null	Het
Srrm2	T	C	17: 24,027,084 (GRCm39)	L96P	unknown	Het
Strn	A	T	17: 78,977,852 (GRCm39)	L175Q		Het

Other mutations in Gm5624

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02502:Gm5624	APN	14	44,797,296 (GRCm39)	critical splice donor site	probably null
IGL02682:Gm5624	APN	14	44,797,469 (GRCm39)	missense	possibly damaging	0.86
IGL03145:Gm5624	APN	14	44,798,222 (GRCm39)	missense	possibly damaging	0.50
IGL03212:Gm5624	APN	14	44,798,167 (GRCm39)	missense	probably benign	0.01
R1800:Gm5624	UTSW	14	44,799,302 (GRCm39)	missense	probably damaging	1.00
R6136:Gm5624	UTSW	14	44,797,333 (GRCm39)	missense	probably benign	0.17
R6727:Gm5624	UTSW	14	44,799,332 (GRCm39)	missense	possibly damaging	0.52
R7512:Gm5624	UTSW	14	44,799,312 (GRCm39)	missense
R7662:Gm5624	UTSW	14	44,799,390 (GRCm39)	missense	possibly damaging	0.94
R8411:Gm5624	UTSW	14	44,799,347 (GRCm39)	missense
R8413:Gm5624	UTSW	14	44,799,347 (GRCm39)	missense
R9355:Gm5624	UTSW	14	44,799,272 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCACACTTCGGTAACCTGAGTC -3'
(R):5'- GCAAGGATGTGGCATACAATTTTC -3'

Sequencing Primer
(F):5'- CACTTCGGTAACCTGAGTCTAAGAG -3'
(R):5'- GGGAATTCCAGATACAGCCTTTTTGC -3'

Posted On

2020-09-15