Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:C1qtnf12'

163511

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1487 (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 156050331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 223 (E223K)

Ref Sequence

ENSEMBL: ENSMUSP00000024338 (fasta)

Gene Model

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

AlphaFold

Q8R2Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024338
AA Change: E223K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024338
Gene: ENSMUSG00000023571
AA Change: E223K

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: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGTCACCTCCTAATTTCCACAG -3'
(R):5'- TTGCTCTCCAGACCTGATACAGCC -3'

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

Posted On

2014-03-28