Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01832:C1qtnf12'

154797

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 #

IGL01832

Quality Score

Status

Chromosome

Chromosomal Location

156046775-156051086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156050323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 220 (D220G)

Ref Sequence

ENSEMBL: ENSMUSP00000024338 (fasta)

Gene Model

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

AlphaFold

Q8R2Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024338
AA Change: D220G

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

SMART Domains

Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: D220G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,985,758 (GRCm39)	T681I	probably benign	Het
Atg4b	T	C	1: 93,713,626 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,125,262 (GRCm39)	M1076K	probably damaging	Het
Atp23	A	T	10: 126,730,214 (GRCm39)	N111K	probably damaging	Het
Atxn2	C	A	5: 121,944,331 (GRCm39)	Y72*	probably null	Het
C2cd3	A	T	7: 100,076,421 (GRCm39)	T1171S	possibly damaging	Het
Ccdc15	G	A	9: 37,222,640 (GRCm39)	R585W	probably damaging	Het
Cep152	A	C	2: 125,460,414 (GRCm39)	Y179*	probably null	Het
Cpa2	T	C	6: 30,551,998 (GRCm39)	S242P	probably benign	Het
Ctps2	G	T	X: 161,719,699 (GRCm39)		probably benign	Het
Cttnbp2nl	A	G	3: 104,918,544 (GRCm39)	S99P	probably damaging	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Erbb4	T	C	1: 68,293,725 (GRCm39)	K722R	possibly damaging	Het
Ercc8	A	G	13: 108,305,993 (GRCm39)	T123A	probably damaging	Het
Ermard	T	C	17: 15,280,111 (GRCm39)	V87A	probably damaging	Het
Fkbp8	A	G	8: 70,984,195 (GRCm39)	H182R	probably benign	Het
Gab2	T	C	7: 96,953,445 (GRCm39)	L606P	probably damaging	Het
Gls	C	T	1: 52,207,568 (GRCm39)		probably null	Het
Hook3	A	T	8: 26,562,393 (GRCm39)	M224K	possibly damaging	Het
Itga5	T	A	15: 103,264,376 (GRCm39)	K298*	probably null	Het
Itprid2	G	A	2: 79,481,762 (GRCm39)	V481M	possibly damaging	Het
Lrrc74a	C	A	12: 86,808,488 (GRCm39)	T422K	probably benign	Het
Myh9	A	C	15: 77,675,953 (GRCm39)	D244E	probably benign	Het
Ndrg4	A	G	8: 96,439,947 (GRCm39)	E349G	probably damaging	Het
Or9m2	T	A	2: 87,820,513 (GRCm39)	D19E	probably benign	Het
Otop2	T	C	11: 115,217,769 (GRCm39)	S202P	probably benign	Het
Plppr2	C	A	9: 21,854,742 (GRCm39)	R138S	possibly damaging	Het
Prkaca	A	C	8: 84,717,366 (GRCm39)	K206N	probably damaging	Het
Ptpro	C	T	6: 137,370,666 (GRCm39)	T589I	possibly damaging	Het
Ptprq	A	G	10: 107,401,700 (GRCm39)		probably null	Het
Slc16a5	T	C	11: 115,355,827 (GRCm39)	V96A	probably benign	Het
Tcerg1	A	G	18: 42,707,620 (GRCm39)	K1047E	probably damaging	Het
Tinag	T	C	9: 76,939,038 (GRCm39)	K147E	probably benign	Het
Urgcp	T	C	11: 5,667,325 (GRCm39)	T338A	probably damaging	Het
Wdr74	C	T	19: 8,717,302 (GRCm39)	R299C	probably damaging	Het
Zzef1	C	T	11: 72,765,892 (GRCm39)	S1473L	probably damaging	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
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