Mutagenetix > Incidental Mutation

Incidental Mutation 'R8691:C1qtnf9'

668389

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf9

Ensembl Gene

ENSMUSG00000071347

Gene Name

C1q and tumor necrosis factor related protein 9

Synonyms

9130217G22Rik, CTRP9

MMRRC Submission

068545-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8691 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61005583-61018318 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61017141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 224 (D224N)

Ref Sequence

ENSEMBL: ENSMUSP00000025940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025940] [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225043] [ENSMUST00000225506]

AlphaFold

Q4ZJN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025940
AA Change: D224N

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

SMART Domains

Protein: ENSMUSP00000025940
Gene: ENSMUSG00000071347
AA Change: D224N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Collagen	23	84	5.2e-11	PFAM
Pfam:Collagen	78	147	4.4e-10	PFAM
C1Q	195	332	1.29e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063562

SMART Domains

Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Peptidase_M3	252	697	5.4e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224635

Predicted Effect

probably benign
Transcript: ENSMUST00000225043

Predicted Effect

probably benign
Transcript: ENSMUST00000225506

Meta Mutation Damage Score

0.5780

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased caloric intake, increased percent body fat/body weight, obesity, insulin resistance, and hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	T	5: 30,310,287 (GRCm39)	A24E	unknown	Het
Acap1	A	G	11: 69,781,003 (GRCm39)	L117P	probably damaging	Het
Actl6b	G	A	5: 137,565,585 (GRCm39)	G394S	probably damaging	Het
Actr3b	G	T	5: 26,030,202 (GRCm39)	V177F	possibly damaging	Het
Adamts6	A	G	13: 104,450,839 (GRCm39)	T341A	probably benign	Het
Agbl4	G	T	4: 111,520,156 (GRCm39)	V474F	probably benign	Het
Atosa	A	T	9: 74,917,335 (GRCm39)	T652S	probably benign	Het
Bach1	T	C	16: 87,516,517 (GRCm39)	S353P	probably benign	Het
Camkmt	A	T	17: 85,421,260 (GRCm39)	N121Y	probably damaging	Het
Card6	A	T	15: 5,129,078 (GRCm39)	Y773N	possibly damaging	Het
Cbfa2t2	C	A	2: 154,342,403 (GRCm39)	P40T	possibly damaging	Het
Colec10	A	C	15: 54,298,420 (GRCm39)	E60D	probably benign	Het
Cspg4	T	C	9: 56,800,280 (GRCm39)	V1647A	probably benign	Het
Cyp2d34	A	G	15: 82,502,471 (GRCm39)	F222L	probably benign	Het
Dennd1b	A	T	1: 138,969,774 (GRCm39)	I97F	possibly damaging	Het
Deptor	A	C	15: 55,083,596 (GRCm39)	D388A	possibly damaging	Het
Dhx40	T	C	11: 86,690,419 (GRCm39)	K201E	possibly damaging	Het
Dnah6	G	A	6: 73,145,850 (GRCm39)	R854C	probably damaging	Het
Dock9	T	C	14: 121,877,517 (GRCm39)	I409V	possibly damaging	Het
Eif1ad16	T	G	12: 87,985,278 (GRCm39)	K88N	probably damaging	Het
Esp31	G	T	17: 38,955,592 (GRCm39)	L78F	possibly damaging	Het
Fam98c	A	T	7: 28,852,889 (GRCm39)	V48E	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,264 (GRCm39)	E1517V	possibly damaging	Het
Fgfr1	A	T	8: 26,052,253 (GRCm39)	D193V	possibly damaging	Het
Furin	C	T	7: 80,041,775 (GRCm39)		probably benign	Het
Gm17078	A	T	14: 51,848,693 (GRCm39)	F15I	probably damaging	Het
Grid2	G	T	6: 63,480,321 (GRCm39)	R45L	probably damaging	Het
Hecw2	A	G	1: 53,904,223 (GRCm39)	V1175A	probably benign	Het
Hspa1b	T	C	17: 35,176,072 (GRCm39)	I638V	possibly damaging	Het
Ighv6-7	A	G	12: 114,419,304 (GRCm39)	V100A	probably benign	Het
Itch	G	T	2: 155,052,478 (GRCm39)	E693*	probably null	Het
Ivl	G	A	3: 92,478,823 (GRCm39)	S414L	unknown	Het
Kif5b	T	A	18: 6,225,787 (GRCm39)	N160I	probably benign	Het
Klhl5	A	G	5: 65,306,881 (GRCm39)		probably benign	Het
Lpin1	C	T	12: 16,623,660 (GRCm39)		probably benign	Het
Malsu1	C	A	6: 49,052,171 (GRCm39)	H130Q	probably benign	Het
Naip2	A	C	13: 100,297,676 (GRCm39)	L787V	probably damaging	Het
Nynrin	C	T	14: 56,110,106 (GRCm39)	R1738W	probably damaging	Het
Or11g27	A	G	14: 50,770,910 (GRCm39)	T14A	probably benign	Het
Or4e1	A	T	14: 52,701,358 (GRCm39)	I36N	possibly damaging	Het
Or51d1	C	T	7: 102,347,777 (GRCm39)	Q111*	probably null	Het
Or7e176	T	A	9: 20,171,747 (GRCm39)	S204T	probably benign	Het
Pclo	A	G	5: 14,571,706 (GRCm39)	T364A	unknown	Het
Phlda2	A	C	7: 143,056,206 (GRCm39)	S8A	probably benign	Het
Pou3f1	G	A	4: 124,551,549 (GRCm39)	G17E	unknown	Het
Ppfibp2	A	G	7: 107,346,785 (GRCm39)	D899G	probably damaging	Het
Pskh1	T	C	8: 106,639,833 (GRCm39)	V171A	probably damaging	Het
Rictor	A	G	15: 6,816,513 (GRCm39)	T1262A	probably damaging	Het
Rnf41	T	C	10: 128,274,077 (GRCm39)	V243A	probably benign	Het
Slc9c1	T	A	16: 45,427,182 (GRCm39)	N1162K	probably benign	Het
Spef2	A	T	15: 9,602,005 (GRCm39)	L1419*	probably null	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnc	A	G	4: 63,880,313 (GRCm39)	C1954R	probably damaging	Het
Ttll11	T	A	2: 35,674,161 (GRCm39)	I622F	probably damaging	Het
Utp25	T	C	1: 192,796,110 (GRCm39)	E673G	probably benign	Het
Vmn2r104	A	G	17: 20,262,110 (GRCm39)	I340T	probably damaging	Het
Vmn2r110	G	T	17: 20,803,404 (GRCm39)	D390E	probably benign	Het

Other mutations in C1qtnf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:C1qtnf9	APN	14	61,017,442 (GRCm39)	missense	probably damaging	1.00
IGL01088:C1qtnf9	APN	14	61,017,205 (GRCm39)	missense	probably benign	0.01
IGL02738:C1qtnf9	APN	14	61,017,388 (GRCm39)	missense	probably benign	0.36
R0455:C1qtnf9	UTSW	14	61,009,820 (GRCm39)	missense	probably damaging	1.00
R5516:C1qtnf9	UTSW	14	61,017,198 (GRCm39)	missense	probably damaging	1.00
R5834:C1qtnf9	UTSW	14	61,016,899 (GRCm39)	missense	probably damaging	1.00
R5918:C1qtnf9	UTSW	14	61,009,737 (GRCm39)	start gained	probably benign
R6241:C1qtnf9	UTSW	14	61,017,069 (GRCm39)	missense	possibly damaging	0.92
R6748:C1qtnf9	UTSW	14	61,017,276 (GRCm39)	missense	probably damaging	1.00
R7040:C1qtnf9	UTSW	14	61,017,241 (GRCm39)	missense	probably damaging	1.00
R7070:C1qtnf9	UTSW	14	61,017,232 (GRCm39)	missense	probably damaging	1.00
R7109:C1qtnf9	UTSW	14	61,017,019 (GRCm39)	missense	probably benign	0.29
R7659:C1qtnf9	UTSW	14	61,009,753 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TTTGGGTCCCAAGGGCTTAC -3'
(R):5'- GCTCATGTAACTGTCCTTGGTG -3'

Sequencing Primer
(F):5'- TCGGCAAACCAGGTCCCAG -3'
(R):5'- GGTGTGCAGGACTTTTACCCC -3'

Posted On

2021-04-30