Mutagenetix > Incidental Mutation

Incidental Mutation 'R3786:C1qtnf12'

272250

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf12

Ensembl Gene

ENSMUSG00000023571

Gene Name

C1q and tumor necrosis factor related 12

Synonyms

1110035L05Rik, Fam132a, adipolin, alipolin, C1qdc2

MMRRC Submission

040753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156046775-156051086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156050356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 231 (R231H)

Ref Sequence

ENSEMBL: ENSMUSP00000024338 (fasta)

Gene Model

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

AlphaFold

Q8R2Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024338
AA Change: R231H

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

SMART Domains

Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: R231H

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

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	A	3: 97,066,605 (GRCm39)	L41Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Btbd7	C	T	12: 102,804,411 (GRCm39)	E210K	probably benign	Het
Cenpf	T	A	1: 189,390,534 (GRCm39)	E1099D	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dzip3	C	A	16: 48,795,906 (GRCm39)	C155F	probably benign	Het
Fam161b	A	T	12: 84,408,464 (GRCm39)		probably null	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Hao2	T	A	3: 98,784,068 (GRCm39)	E327V	probably damaging	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Hnrnpl	A	G	7: 28,510,436 (GRCm39)		probably benign	Het
Itgb1	T	A	8: 129,439,839 (GRCm39)	I176N	probably damaging	Het
Kif13b	C	T	14: 65,037,849 (GRCm39)	T1505I	probably benign	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mettl3	A	T	14: 52,537,363 (GRCm39)	I102N	probably benign	Het
Mgat4c	A	G	10: 102,220,931 (GRCm39)	H71R	probably damaging	Het
Misp	G	A	10: 79,661,795 (GRCm39)	V71I	probably benign	Het
Muc2	A	G	7: 141,283,590 (GRCm39)	Q734R	probably benign	Het
Muc5b	C	T	7: 141,418,853 (GRCm39)	T3933I	possibly damaging	Het
Myh13	A	G	11: 67,218,014 (GRCm39)	N29S	probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neb	C	A	2: 52,091,927 (GRCm39)	V5046F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nrg1	A	T	8: 32,311,411 (GRCm39)	V376E	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Odr4	A	G	1: 150,260,282 (GRCm39)	I112T	probably benign	Het
Ppp1r21	T	A	17: 88,884,555 (GRCm39)		probably null	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Rhoc	T	C	3: 104,700,003 (GRCm39)		probably null	Het
Robo3	A	G	9: 37,333,521 (GRCm39)	V708A	probably damaging	Het
Rtcb	G	T	10: 85,778,458 (GRCm39)	T395K	possibly damaging	Het
Rttn	A	G	18: 89,056,018 (GRCm39)	T967A	probably benign	Het
Sacs	C	A	14: 61,421,410 (GRCm39)	Q116K	probably damaging	Het
Smarca4	A	G	9: 21,583,355 (GRCm39)	H1062R	possibly damaging	Het
Spatc1l	C	T	10: 76,399,736 (GRCm39)	T86I	probably benign	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tsc1	A	G	2: 28,577,154 (GRCm39)	D1151G	probably damaging	Het
Ttll1	T	C	15: 83,368,419 (GRCm39)	D413G	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Wnt16	A	G	6: 22,298,021 (GRCm39)	N296D	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGGTGAGCCAGTCTCTATATATGC -3'
(R):5'- TCCAGACCTGATACAGCCTC -3'

Sequencing Primer
(F):5'- GCCAGTCTCTATATATGCACTATGGG -3'
(R):5'- TGATACAGCCTCCAGGGAC -3'

Posted On

2015-03-25