Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01796:C1qtnf12'

155342

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 #

IGL01796

Quality Score

Status

Chromosome

Chromosomal Location

156046775-156051086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156050886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 285 (V285A)

Ref Sequence

ENSEMBL: ENSMUSP00000024338 (fasta)

Gene Model

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

AlphaFold

Q8R2Z0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024338
AA Change: V285A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: V285A

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,590,273 (GRCm39)	Y511H	probably damaging	Het
Abca7	T	G	10: 79,849,743 (GRCm39)	Y1948D	probably damaging	Het
Adgrl2	C	A	3: 148,564,611 (GRCm39)	G319V	probably damaging	Het
Adgrv1	T	A	13: 81,715,461 (GRCm39)	D909V	probably benign	Het
Anapc16	T	C	10: 59,824,579 (GRCm39)	E119G	possibly damaging	Het
Cbr1	A	C	16: 93,405,119 (GRCm39)	N89T	probably damaging	Het
Cdh23	T	A	10: 60,146,916 (GRCm39)	Q2778L	probably benign	Het
Clca4c-ps	A	G	3: 144,595,340 (GRCm39)		noncoding transcript	Het
Cst9	T	C	2: 148,677,269 (GRCm39)	F47L	probably damaging	Het
Dqx1	T	C	6: 83,043,408 (GRCm39)		probably benign	Het
Dus4l	T	C	12: 31,692,794 (GRCm39)	S150G	probably benign	Het
E2f2	A	T	4: 135,907,728 (GRCm39)	K142*	probably null	Het
Eif2ak4	T	A	2: 118,276,785 (GRCm39)	H169Q	probably benign	Het
Fmo9	C	T	1: 166,490,904 (GRCm39)	A525T	probably benign	Het
Gm42878	T	C	5: 121,683,247 (GRCm39)	D6G	probably benign	Het
Igfals	A	G	17: 25,099,056 (GRCm39)	Y49C	probably damaging	Het
Il22b	T	C	10: 118,126,069 (GRCm39)	N176S	possibly damaging	Het
Ipo7	T	C	7: 109,629,055 (GRCm39)		probably benign	Het
Itga1	T	C	13: 115,121,657 (GRCm39)	E784G	probably damaging	Het
Jcad	G	T	18: 4,672,855 (GRCm39)	E206*	probably null	Het
Kif24	A	T	4: 41,392,978 (GRCm39)		probably benign	Het
Lrrc2	T	A	9: 110,809,886 (GRCm39)		probably null	Het
Ltbp1	A	G	17: 75,534,240 (GRCm39)		probably benign	Het
Man2c1	C	T	9: 57,045,244 (GRCm39)	T451I	possibly damaging	Het
Manba	T	A	3: 135,248,150 (GRCm39)	N346K	probably damaging	Het
Nell1	T	C	7: 49,825,964 (GRCm39)		probably benign	Het
Nfat5	T	C	8: 108,094,273 (GRCm39)	V744A	probably damaging	Het
Nms	T	C	1: 38,985,192 (GRCm39)	M98T	possibly damaging	Het
Nos1	A	T	5: 118,076,339 (GRCm39)	K1120*	probably null	Het
Or11g25	C	A	14: 50,722,998 (GRCm39)	Q28K	probably benign	Het
Plekho1	C	T	3: 95,898,147 (GRCm39)	R172H	probably damaging	Het
Pot1b	A	T	17: 55,976,750 (GRCm39)	C391S	possibly damaging	Het
Scn1a	G	A	2: 66,162,645 (GRCm39)		probably benign	Het
Sgce	T	G	6: 4,711,326 (GRCm39)	N149H	probably damaging	Het
Slc45a1	A	G	4: 150,728,426 (GRCm39)	W126R	probably damaging	Het
Slc9a1	G	A	4: 133,147,404 (GRCm39)		probably benign	Het
Tmem131l	T	A	3: 83,845,362 (GRCm39)	K423*	probably null	Het
Tnrc18	C	T	5: 142,750,642 (GRCm39)	E1444K	possibly damaging	Het
Tpp1	T	C	7: 105,396,857 (GRCm39)		probably benign	Het
Trip12	A	C	1: 84,705,999 (GRCm39)	S610R	probably benign	Het
Ushbp1	G	T	8: 71,840,076 (GRCm39)	A525E	probably benign	Het
Vmn2r106	A	T	17: 20,488,314 (GRCm39)	M695K	possibly damaging	Het
Vmn2r118	A	G	17: 55,915,585 (GRCm39)	I455T	probably benign	Het
Zbtb41	T	C	1: 139,370,621 (GRCm39)	F686S	probably damaging	Het

Other mutations in C1qtnf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:C1qtnf12	APN	4	156,050,323 (GRCm39)	missense	probably damaging	1.00
IGL02015:C1qtnf12	APN	4	156,047,201 (GRCm39)	unclassified	probably benign
IGL03053:C1qtnf12	APN	4	156,050,921 (GRCm39)	missense	probably damaging	0.99
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

2014-02-04