Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03053:C1qtnf12'

409136

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C1qtnf12

Ensembl Gene

ENSMUSG00000023571

Gene Name

C1q and tumor necrosis factor related 12

Synonyms

alipolin, C1qdc2, Fam132a, 1110035L05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

155962318-155966629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155966464 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 297 (N297Y)

Ref Sequence

ENSEMBL: ENSMUSP00000024338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024338]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024338
AA Change: N297Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: N297Y

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	94	118	N/A	INTRINSIC
Blast:TNF	168	305	1e-17	BLAST
SCOP:d1gr3a_	192	306	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149558

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,755,853	Q342*	probably null	Het
Arglu1	T	A	8: 8,683,960	I119L	probably benign	Het
Atp1a2	G	A	1: 172,278,356	T914I	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
Cbwd1	T	A	19: 24,955,377	E97D	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Dis3	A	G	14: 99,098,734	V112A	probably benign	Het
Ehd3	A	G	17: 73,805,442	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,251,494	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,513,618	V252G	probably benign	Het
Fggy	A	T	4: 95,926,809		probably benign	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Hnf1a	T	A	5: 114,970,733	M38L	probably benign	Het
Kif13a	T	C	13: 46,752,088	N793S	probably benign	Het
Kit	A	G	5: 75,610,914	N244D	probably benign	Het
Mb21d1	A	T	9: 78,437,437	F234Y	probably benign	Het
Mgat5b	A	G	11: 116,923,450	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,493,079	H1098R	probably benign	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr1230	A	C	2: 89,296,445	I275S	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr215	T	C	6: 116,582,245	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,143,601	I42T	probably damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,407,332		probably benign	Het
Rc3h1	T	A	1: 160,955,817	D734E	probably benign	Het
Rtel1	A	G	2: 181,351,944	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,614,860	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,092,074	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,823,118	Y755C	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	probably damaging	Het
Zzef1	G	T	11: 72,831,539		probably benign	Het

Other mutations in C1qtnf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:C1qtnf12	APN	4	155966429	missense	possibly damaging	0.93
IGL01832:C1qtnf12	APN	4	155965866	missense	probably damaging	1.00
IGL02015:C1qtnf12	APN	4	155962744	unclassified	probably benign
R1313:C1qtnf12	UTSW	4	155965874	missense	probably damaging	0.96
R1313:C1qtnf12	UTSW	4	155965874	missense	probably damaging	0.96
R1315:C1qtnf12	UTSW	4	155965874	missense	probably damaging	0.96
R1316:C1qtnf12	UTSW	4	155965874	missense	probably damaging	0.96
R1412:C1qtnf12	UTSW	4	155962733	missense	probably benign
R1487:C1qtnf12	UTSW	4	155965874	missense	probably damaging	0.96
R1828:C1qtnf12	UTSW	4	155965703	critical splice donor site	probably null
R2146:C1qtnf12	UTSW	4	155966465	missense	probably benign	0.01
R2147:C1qtnf12	UTSW	4	155966465	missense	probably benign	0.01
R2148:C1qtnf12	UTSW	4	155966465	missense	probably benign	0.01
R2150:C1qtnf12	UTSW	4	155966465	missense	probably benign	0.01
R3786:C1qtnf12	UTSW	4	155965899	missense	probably damaging	1.00
R6859:C1qtnf12	UTSW	4	155965613	missense	probably damaging	1.00
R7252:C1qtnf12	UTSW	4	155962615	missense	unknown
Z1177:C1qtnf12	UTSW	4	155965649	missense	probably damaging	1.00

Posted On

2016-08-02