Mutagenetix > Incidental Mutation

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

1110035L05Rik, Fam132a, adipolin, alipolin, C1qdc2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

156046775-156051086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156050921 bp (GRCm39)

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]

AlphaFold

Q8R2Z0

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: 106,613,050 (GRCm39)	Q342*	probably null	Het
Arglu1	T	A	8: 8,733,960 (GRCm39)	I119L	probably benign	Het
Atp1a2	G	A	1: 172,105,923 (GRCm39)	T914I	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Brwd1	A	T	16: 95,818,877 (GRCm39)	S1318R	possibly damaging	Het
Cgas	A	T	9: 78,344,719 (GRCm39)	F234Y	probably benign	Het
Cyp2a4	A	T	7: 26,012,975 (GRCm39)		probably benign	Het
Cyp2j7	C	T	4: 96,118,274 (GRCm39)	M106I	probably benign	Het
Dis3	A	G	14: 99,336,170 (GRCm39)	V112A	probably benign	Het
Ehd3	A	G	17: 74,112,437 (GRCm39)	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,108,691 (GRCm39)	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,650,126 (GRCm39)	V252G	probably benign	Het
Fggy	A	T	4: 95,815,046 (GRCm39)		probably benign	Het
Hc	G	T	2: 34,914,210 (GRCm39)	N832K	probably benign	Het
Hnf1a	T	A	5: 115,108,792 (GRCm39)	M38L	probably benign	Het
Kif13a	T	C	13: 46,905,564 (GRCm39)	N793S	probably benign	Het
Kit	A	G	5: 75,771,574 (GRCm39)	N244D	probably benign	Het
Mgat5b	A	G	11: 116,814,276 (GRCm39)	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,469,723 (GRCm39)	H1098R	probably benign	Het
Or2l13	A	T	16: 19,305,969 (GRCm39)	H127L	probably benign	Het
Or2n1e	A	C	17: 38,585,682 (GRCm39)	S7R	probably damaging	Het
Or4c123	A	C	2: 89,126,789 (GRCm39)	I275S	probably damaging	Het
Or4p7	A	G	2: 88,221,938 (GRCm39)	M116V	probably damaging	Het
Or5ac16	A	G	16: 59,022,610 (GRCm39)	Y60H	probably damaging	Het
Or5t9	A	G	2: 86,659,607 (GRCm39)	I170M	possibly damaging	Het
Or6d15	T	C	6: 116,559,206 (GRCm39)	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,281,664 (GRCm39)	I42T	probably damaging	Het
Prkd2	A	G	7: 16,584,188 (GRCm39)	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,652,030 (GRCm39)	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,457,362 (GRCm39)		probably benign	Het
Rc3h1	T	A	1: 160,783,387 (GRCm39)	D734E	probably benign	Het
Rtel1	A	G	2: 180,993,737 (GRCm39)	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,168,597 (GRCm39)	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833 (GRCm39)	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,239,933 (GRCm39)	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,800,077 (GRCm39)	Y755C	probably damaging	Het
Zfhx3	T	C	8: 109,673,132 (GRCm39)	V1394A	probably damaging	Het
Zng1	T	A	19: 24,932,741 (GRCm39)	E97D	probably damaging	Het
Zzef1	G	T	11: 72,722,365 (GRCm39)		probably benign	Het

Other mutations in C1qtnf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:C1qtnf12	APN	4	156,050,886 (GRCm39)	missense	possibly damaging	0.93
IGL01832:C1qtnf12	APN	4	156,050,323 (GRCm39)	missense	probably damaging	1.00
IGL02015:C1qtnf12	APN	4	156,047,201 (GRCm39)	unclassified	probably benign
R1313:C1qtnf12	UTSW	4	156,050,331 (GRCm39)	missense	probably damaging	0.96
R1313:C1qtnf12	UTSW	4	156,050,331 (GRCm39)	missense	probably damaging	0.96
R1315:C1qtnf12	UTSW	4	156,050,331 (GRCm39)	missense	probably damaging	0.96
R1316:C1qtnf12	UTSW	4	156,050,331 (GRCm39)	missense	probably damaging	0.96
R1412:C1qtnf12	UTSW	4	156,047,190 (GRCm39)	missense	probably benign
R1487:C1qtnf12	UTSW	4	156,050,331 (GRCm39)	missense	probably damaging	0.96
R1828:C1qtnf12	UTSW	4	156,050,160 (GRCm39)	critical splice donor site	probably null
R2146:C1qtnf12	UTSW	4	156,050,922 (GRCm39)	missense	probably benign	0.01
R2147:C1qtnf12	UTSW	4	156,050,922 (GRCm39)	missense	probably benign	0.01
R2148:C1qtnf12	UTSW	4	156,050,922 (GRCm39)	missense	probably benign	0.01
R2150:C1qtnf12	UTSW	4	156,050,922 (GRCm39)	missense	probably benign	0.01
R3786:C1qtnf12	UTSW	4	156,050,356 (GRCm39)	missense	probably damaging	1.00
R6859:C1qtnf12	UTSW	4	156,050,070 (GRCm39)	missense	probably damaging	1.00
R7252:C1qtnf12	UTSW	4	156,047,072 (GRCm39)	missense	unknown
R8251:C1qtnf12	UTSW	4	156,050,916 (GRCm39)	missense	probably damaging	1.00
R8946:C1qtnf12	UTSW	4	156,050,882 (GRCm39)	missense	probably damaging	1.00
R9564:C1qtnf12	UTSW	4	156,049,473 (GRCm39)	missense	probably benign	0.01
Z1177:C1qtnf12	UTSW	4	156,050,106 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02