Mutagenetix > Incidental Mutation

Incidental Mutation 'R0128:C87436'

21503

Institutional Source

Beutler Lab

Gene Symbol

C87436

Ensembl Gene

ENSMUSG00000046679

Gene Name

expressed sequence C87436

Synonyms

MMRRC Submission

038413-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R0128 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

86438374-86473500 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86469827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 533 (G533D)

Ref Sequence

ENSEMBL: ENSMUSP00000109330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050497] [ENSMUST00000113698] [ENSMUST00000113700] [ENSMUST00000133753] [ENSMUST00000141972]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050497
AA Change: G533D

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

SMART Domains

Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: G533D

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	1.1e-22	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113698
AA Change: G523D

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

SMART Domains

Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: G523D

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	1e-22	PFAM
low complexity region	278	290	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113700
AA Change: G533D

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

SMART Domains

Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: G533D

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	16	57	1.3e-22	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129343

Predicted Effect

probably benign
Transcript: ENSMUST00000133753

SMART Domains

Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	6.2e-23	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141972

SMART Domains

Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679

Domain	Start	End	E-Value	Type
Pfam:zf-tcix	15	58	6.2e-23	PFAM
low complexity region	288	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154066

Meta Mutation Damage Score

0.7813

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,575,639		probably benign	Het
Abcd4	T	G	12: 84,612,352	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Actl6b	A	G	5: 137,555,065	N113S	probably benign	Het
Actn3	A	T	19: 4,871,615	V179E	probably damaging	Het
Aff4	C	A	11: 53,415,466	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,591,859	Q431*	probably null	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Asap3	C	A	4: 136,234,604	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,713,184	N477S	probably damaging	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
Ccdc138	T	A	10: 58,528,360	I314N	probably damaging	Het
Ccs	A	G	19: 4,825,626	F237S	probably damaging	Het
Ccz1	T	G	5: 144,009,294		probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Chd1	A	G	17: 17,393,567	N531S	probably damaging	Het
Clptm1	A	T	7: 19,635,007	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dlg1	G	T	16: 31,858,065		probably null	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Ergic3	C	A	2: 156,011,140	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Ghrl	A	T	6: 113,717,168		probably benign	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm12166	A	G	11: 46,052,293	M1T	probably null	Het
Gm4787	T	A	12: 81,377,747	K546*	probably null	Het
Gm498	G	T	7: 143,891,755	G178C	probably damaging	Het
Gm6576	C	G	15: 27,026,000		noncoding transcript	Het
Got1	C	T	19: 43,524,377	D27N	probably benign	Het
Gucy2c	C	T	6: 136,704,249	V946I	probably damaging	Het
Hectd4	T	C	5: 121,349,243	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Itpr1	A	G	6: 108,471,209		probably benign	Het
Kctd1	G	A	18: 14,974,180	P743S	probably benign	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Krt24	T	C	11: 99,280,267	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Lipo3	C	T	19: 33,557,106		probably null	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k4	T	A	17: 12,248,063	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,461,223	V15A	probably benign	Het
Narf	C	T	11: 121,250,836	R356C	probably damaging	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Olfm5	G	A	7: 104,160,926	A76V	probably benign	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr656	A	T	7: 104,618,581	I301F	probably damaging	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Palb2	A	T	7: 122,128,166	Y160*	probably null	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pdcd11	G	A	19: 47,119,862	V1223I	probably benign	Het
Pde6c	T	C	19: 38,169,365		probably benign	Het
Prr12	A	G	7: 45,050,039		probably benign	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sfr1	A	G	19: 47,735,018	*320W	probably null	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,636,209	M519V	probably benign	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Sp4	A	G	12: 118,300,816		probably benign	Het
Spag9	T	A	11: 94,093,539	I327N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Ubap2l	A	T	3: 90,021,373	S478T	possibly damaging	Het
Unc79	A	G	12: 103,088,434		probably benign	Het
Vmn2r85	A	G	10: 130,419,185		probably benign	Het
Wrap73	A	G	4: 154,142,500	D19G	possibly damaging	Het

Other mutations in C87436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:C87436	APN	6	86457855	missense	probably damaging	1.00
IGL01596:C87436	APN	6	86446219	missense	probably damaging	1.00
IGL02039:C87436	APN	6	86453695	missense	probably benign	0.40
IGL02798:C87436	APN	6	86446202	missense	probably benign	0.01
R0008:C87436	UTSW	6	86446283	unclassified	probably benign
R0445:C87436	UTSW	6	86449850	missense	possibly damaging	0.77
R0970:C87436	UTSW	6	86447328	missense	probably damaging	0.99
R1125:C87436	UTSW	6	86447362	missense	probably benign	0.00
R1310:C87436	UTSW	6	86445450	missense	possibly damaging	0.78
R1640:C87436	UTSW	6	86446251	missense	probably damaging	0.99
R1764:C87436	UTSW	6	86453612	missense	possibly damaging	0.92
R2213:C87436	UTSW	6	86445473	missense	probably benign	0.04
R2275:C87436	UTSW	6	86445600	missense	probably damaging	1.00
R3947:C87436	UTSW	6	86446186	missense	probably damaging	1.00
R5416:C87436	UTSW	6	86465850	missense	probably damaging	1.00
R5604:C87436	UTSW	6	86447355	missense	probably benign	0.01
R5982:C87436	UTSW	6	86445975	missense	possibly damaging	0.87
R6171:C87436	UTSW	6	86445467	missense	probably benign	0.04
R6744:C87436	UTSW	6	86446064	missense	probably damaging	1.00
R7215:C87436	UTSW	6	86462680	missense	possibly damaging	0.80
R7253:C87436	UTSW	6	86465808	missense	probably damaging	1.00
R7876:C87436	UTSW	6	86446429	splice site	probably null
R8035:C87436	UTSW	6	86447355	missense	probably benign	0.01
R8312:C87436	UTSW	6	86457831	missense	probably damaging	1.00
R8919:C87436	UTSW	6	86445792	missense	probably damaging	1.00
R9091:C87436	UTSW	6	86465831	missense	probably benign	0.00
R9099:C87436	UTSW	6	86462585	missense	probably damaging	1.00
R9208:C87436	UTSW	6	86446245	missense	probably benign	0.16
R9270:C87436	UTSW	6	86465831	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGTGAGTCTAGCCTTCAACACC -3'
(R):5'- CCTCAGGGATTGGGATGTGCAAAC -3'

Sequencing Primer
(F):5'- tgaaccatcttgccagcc -3'
(R):5'- ATTGGGATGTGCAAACTCTGC -3'

Posted On

2013-04-11