Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03081:Gm12258'

417860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12258

Ensembl Gene

ENSMUSG00000072915

Gene Name

predicted gene 12258

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03081

Quality Score

Status

Chromosome

Chromosomal Location

58737984-58752782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58749085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 87 (N87D)

Ref Sequence

ENSEMBL: ENSMUSP00000117644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093768] [ENSMUST00000139337]

AlphaFold

Q5NC63

Predicted Effect

probably benign
Transcript: ENSMUST00000093768

SMART Domains

Protein: ENSMUSP00000091282
Gene: ENSMUSG00000072915

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	5.21e-4	SMART
ZnF_C2H2	36	58	1.03e-2	SMART
ZnF_C2H2	64	86	2.4e-3	SMART
ZnF_C2H2	92	114	4.17e-3	SMART
ZnF_C2H2	120	142	8.34e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139337
AA Change: N87D

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: N87D

Domain	Start	End	E-Value	Type
KRAB	56	116	1.8e-32	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	C	A	19: 43,770,841 (GRCm39)		probably benign	Het
Acan	T	G	7: 78,748,291 (GRCm39)	S1021A	probably benign	Het
Adamts6	A	G	13: 104,581,464 (GRCm39)		probably benign	Het
Apc2	A	G	10: 80,148,086 (GRCm39)	K1018E	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Atp2b1	T	C	10: 98,830,675 (GRCm39)		probably benign	Het
Cct6b	A	T	11: 82,654,995 (GRCm39)	L20*	probably null	Het
Cd300ld2	G	A	11: 114,903,368 (GRCm39)		probably benign	Het
Cdc23	T	G	18: 34,769,757 (GRCm39)	K454T	probably damaging	Het
Cdh20	A	T	1: 104,868,982 (GRCm39)	I158F	probably damaging	Het
Cdk14	C	T	5: 4,999,527 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clec2i	A	T	6: 128,871,728 (GRCm39)	Y113F	probably damaging	Het
Dmpk	T	A	7: 18,821,458 (GRCm39)	S239T	probably damaging	Het
Dnah8	T	C	17: 30,905,347 (GRCm39)		probably benign	Het
Exoc2	A	G	13: 31,084,885 (GRCm39)	Y359H	probably benign	Het
Eya1	A	T	1: 14,253,415 (GRCm39)	F520L	possibly damaging	Het
Fgfr1op2	A	T	6: 146,498,817 (GRCm39)	I217F	probably damaging	Het
Gp6	A	G	7: 4,374,647 (GRCm39)	S225P	probably benign	Het
Hdac7	T	C	15: 97,696,187 (GRCm39)	Y619C	probably damaging	Het
Lars1	A	G	18: 42,343,156 (GRCm39)	I1087T	probably benign	Het
Lrrc37a	G	T	11: 103,347,421 (GRCm39)	H3091Q	unknown	Het
Mcm3ap	T	C	10: 76,306,150 (GRCm39)	S88P	possibly damaging	Het
Mrps23	G	A	11: 88,101,043 (GRCm39)	R117Q	probably benign	Het
Nbea	T	C	3: 55,987,339 (GRCm39)	S384G	probably damaging	Het
Ndufs4	A	T	13: 114,444,373 (GRCm39)	I135N	possibly damaging	Het
Noto	T	C	6: 85,401,091 (GRCm39)	F40S	probably damaging	Het
Nr5a1	A	T	2: 38,600,544 (GRCm39)	V41D	possibly damaging	Het
Or8b50	C	T	9: 38,518,166 (GRCm39)	A135V	probably benign	Het
Papola	T	A	12: 105,785,114 (GRCm39)	H415Q	probably damaging	Het
Pcm1	C	T	8: 41,728,097 (GRCm39)	T557I	probably damaging	Het
Pde11a	A	T	2: 75,906,274 (GRCm39)		probably benign	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Pygm	T	C	19: 6,438,851 (GRCm39)	S226P	possibly damaging	Het
Rnf17	T	A	14: 56,671,828 (GRCm39)	S273R	probably benign	Het
Scamp2	T	C	9: 57,494,410 (GRCm39)	V261A	possibly damaging	Het
Slc7a12	T	A	3: 14,546,315 (GRCm39)	F153L	probably benign	Het
Smchd1	A	T	17: 71,667,186 (GRCm39)	D1735E	probably damaging	Het
Stk40	A	G	4: 126,017,507 (GRCm39)		probably null	Het
Tas2r124	C	T	6: 132,732,497 (GRCm39)	L269F	possibly damaging	Het
Tmem260	A	C	14: 48,733,750 (GRCm39)	I216L	probably benign	Het
Ubr1	C	A	2: 120,791,637 (GRCm39)	A116S	possibly damaging	Het
Unc13a	T	C	8: 72,102,193 (GRCm39)	K991R	probably damaging	Het
Vmn2r66	T	C	7: 84,657,138 (GRCm39)	Y89C	probably benign	Het
Vps13b	A	C	15: 35,875,966 (GRCm39)	I2784L	probably damaging	Het
Zbtb26	T	A	2: 37,326,612 (GRCm39)	K141N	possibly damaging	Het
Zranb1	T	A	7: 132,552,126 (GRCm39)	M259K	probably damaging	Het

Other mutations in Gm12258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Gm12258	APN	11	58,746,896 (GRCm39)	missense	probably benign
IGL01391:Gm12258	APN	11	58,739,520 (GRCm39)	missense	probably benign	0.03
R1521:Gm12258	UTSW	11	58,750,381 (GRCm39)	missense	probably damaging	1.00
R1653:Gm12258	UTSW	11	58,749,113 (GRCm39)	missense	possibly damaging	0.68
R3895:Gm12258	UTSW	11	58,749,375 (GRCm39)	nonsense	probably null
R4065:Gm12258	UTSW	11	58,749,352 (GRCm39)	missense	probably benign	0.08
R4066:Gm12258	UTSW	11	58,749,352 (GRCm39)	missense	probably benign	0.08
R4747:Gm12258	UTSW	11	58,750,422 (GRCm39)	missense	probably damaging	1.00
R4803:Gm12258	UTSW	11	58,749,856 (GRCm39)	missense	probably benign	0.06
R5554:Gm12258	UTSW	11	58,749,294 (GRCm39)	missense	possibly damaging	0.92
R5896:Gm12258	UTSW	11	58,750,457 (GRCm39)	missense	probably damaging	1.00
R5956:Gm12258	UTSW	11	58,750,285 (GRCm39)	missense	probably benign	0.02
R6277:Gm12258	UTSW	11	58,745,113 (GRCm39)	missense	probably damaging	1.00
R7166:Gm12258	UTSW	11	58,749,299 (GRCm39)	missense
R7728:Gm12258	UTSW	11	58,750,518 (GRCm39)	missense	unknown
R8161:Gm12258	UTSW	11	58,750,138 (GRCm39)	missense	unknown
R8268:Gm12258	UTSW	11	58,745,084 (GRCm39)	critical splice acceptor site	probably null
R8491:Gm12258	UTSW	11	58,745,122 (GRCm39)	missense
R8878:Gm12258	UTSW	11	58,750,112 (GRCm39)	missense	unknown
R9381:Gm12258	UTSW	11	58,750,007 (GRCm39)	missense	unknown
R9409:Gm12258	UTSW	11	58,745,119 (GRCm39)	missense
R9546:Gm12258	UTSW	11	58,749,922 (GRCm39)	missense	unknown
R9723:Gm12258	UTSW	11	58,750,448 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1186:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1188:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1188:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1189:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1191:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1192:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1192:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense

Posted On

2016-08-02