Mutagenetix > Incidental Mutation

Incidental Mutation 'R1896:C1qtnf1'

212000

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf1

Ensembl Gene

ENSMUSG00000017446

Gene Name

C1q and tumor necrosis factor related protein 1

Synonyms

1600017K21Rik, CTRP1

MMRRC Submission

039916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1896 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118319029-118340789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118334583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 21 (G21V)

Ref Sequence

ENSEMBL: ENSMUSP00000117467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017590] [ENSMUST00000106286] [ENSMUST00000124861] [ENSMUST00000133558]

AlphaFold

Q9QXP7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017590
AA Change: G21V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017590
Gene: ENSMUSG00000017446
AA Change: G21V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	85	96	N/A	INTRINSIC
C1Q	140	278	8.4e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106286
AA Change: G21V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101893
Gene: ENSMUSG00000017446
AA Change: G21V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	85	96	N/A	INTRINSIC
C1Q	140	278	8.6e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124861
AA Change: G21V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000133558
AA Change: G21V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117467
Gene: ENSMUSG00000017446
AA Change: G21V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142751

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered glucose and lipid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	C	A	2: 26,733,609 (GRCm39)	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,170,306 (GRCm39)	V277G	probably damaging	Het
Adam23	G	A	1: 63,584,731 (GRCm39)	A380T	probably benign	Het
Art2b	A	G	7: 101,229,236 (GRCm39)	V221A	probably benign	Het
Bcam	A	G	7: 19,500,640 (GRCm39)	S153P	probably damaging	Het
Bltp1	C	T	3: 36,962,380 (GRCm39)	Q494*	probably null	Het
Car13	T	C	3: 14,710,235 (GRCm39)	I59T	probably benign	Het
Cep97	T	C	16: 55,748,107 (GRCm39)	N108D	probably damaging	Het
Cog3	T	A	14: 75,979,784 (GRCm39)	E182D	probably benign	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Endou	A	G	15: 97,610,873 (GRCm39)	Y404H	probably damaging	Het
F12	T	C	13: 55,568,540 (GRCm39)	Y373C	probably damaging	Het
Fam221b	T	C	4: 43,660,375 (GRCm39)	T405A	probably damaging	Het
Fetub	A	G	16: 22,751,045 (GRCm39)	R131G	probably damaging	Het
Foxp2	A	T	6: 15,379,767 (GRCm39)		probably benign	Het
Ggt5	T	C	10: 75,440,560 (GRCm39)	V227A	probably damaging	Het
Gipr	A	G	7: 18,897,996 (GRCm39)	S79P	probably benign	Het
Gphn	A	G	12: 78,459,128 (GRCm39)	D72G	possibly damaging	Het
Gzmk	A	G	13: 113,309,427 (GRCm39)	S208P	probably damaging	Het
Itpkc	T	C	7: 26,907,805 (GRCm39)	D633G	probably damaging	Het
Jarid2	T	C	13: 45,038,358 (GRCm39)		probably null	Het
Kif21b	C	A	1: 136,075,583 (GRCm39)	R237S	possibly damaging	Het
Lama1	G	A	17: 68,098,218 (GRCm39)	R1805H	probably benign	Het
Lpin3	C	T	2: 160,747,218 (GRCm39)	P815S	probably damaging	Het
Lrp1	T	A	10: 127,395,867 (GRCm39)	I2468F	possibly damaging	Het
Nav1	T	C	1: 135,388,475 (GRCm39)	N1118S	probably benign	Het
Ncoa3	T	A	2: 165,890,384 (GRCm39)	I90N	probably benign	Het
Notch3	T	C	17: 32,362,402 (GRCm39)	T1408A	probably benign	Het
Nwd2	A	G	5: 63,962,753 (GRCm39)	D779G	probably benign	Het
Obox6	A	T	7: 15,568,770 (GRCm39)	H35Q	possibly damaging	Het
Pkd1l3	C	A	8: 110,350,831 (GRCm39)	P559T	possibly damaging	Het
Pou2af2	A	G	9: 51,203,098 (GRCm39)	S19P	probably damaging	Het
Pramel23	C	G	4: 143,424,714 (GRCm39)	G243A	probably benign	Het
Prex1	T	A	2: 166,428,574 (GRCm39)	I716F	probably benign	Het
Psap	C	T	10: 60,130,826 (GRCm39)	Q219*	probably null	Het
Rab5if	C	T	2: 156,707,252 (GRCm39)	P64S	probably damaging	Het
Shisa5	T	A	9: 108,885,108 (GRCm39)	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,414,931 (GRCm39)	L21P	probably benign	Het
Slc4a4	A	G	5: 89,194,167 (GRCm39)	T172A	probably damaging	Het
Sned1	C	T	1: 93,192,769 (GRCm39)	P352L	probably benign	Het
Sox4	T	C	13: 29,136,127 (GRCm39)	Y293C	probably damaging	Het
Srgap3	T	A	6: 112,715,958 (GRCm39)	H654L	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Syna	C	A	5: 134,588,006 (GRCm39)	M314I	probably benign	Het
Taf5l	A	G	8: 124,730,152 (GRCm39)	L144P	probably damaging	Het
Tll2	A	G	19: 41,101,498 (GRCm39)	F379L	probably benign	Het
Traf3ip3	A	G	1: 192,858,042 (GRCm39)	V492A	probably benign	Het
Uba2	A	G	7: 33,850,455 (GRCm39)	F364S	probably damaging	Het
Unc50	T	A	1: 37,476,323 (GRCm39)	L161Q	probably damaging	Het
Ush2a	T	C	1: 188,282,206 (GRCm39)	V1907A	probably benign	Het
Uso1	A	T	5: 92,348,992 (GRCm39)		probably null	Het
Utf1	C	A	7: 139,524,213 (GRCm39)	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,490,143 (GRCm39)	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,693,756 (GRCm39)	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,258,055 (GRCm39)	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,973,778 (GRCm39)	R335L	probably damaging	Het
Zbtb26	A	G	2: 37,326,347 (GRCm39)	S230P	possibly damaging	Het
Zfp74	A	T	7: 29,634,569 (GRCm39)	C380S	probably damaging	Het
Zfyve1	A	C	12: 83,602,388 (GRCm39)	V469G	probably damaging	Het

Other mutations in C1qtnf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01805:C1qtnf1	APN	11	118,338,993 (GRCm39)	missense	probably damaging	1.00
IGL02376:C1qtnf1	APN	11	118,338,894 (GRCm39)	missense	probably benign	0.29
IGL02609:C1qtnf1	APN	11	118,338,830 (GRCm39)	missense	probably damaging	1.00
R0594:C1qtnf1	UTSW	11	118,337,454 (GRCm39)	missense	possibly damaging	0.96
R1170:C1qtnf1	UTSW	11	118,339,095 (GRCm39)	missense	probably damaging	1.00
R1442:C1qtnf1	UTSW	11	118,339,011 (GRCm39)	missense	probably damaging	1.00
R1526:C1qtnf1	UTSW	11	118,334,616 (GRCm39)	missense	possibly damaging	0.92
R1540:C1qtnf1	UTSW	11	118,338,749 (GRCm39)	missense	probably benign	0.28
R2011:C1qtnf1	UTSW	11	118,339,110 (GRCm39)	missense	probably benign	0.04
R2012:C1qtnf1	UTSW	11	118,339,110 (GRCm39)	missense	probably benign	0.04
R2901:C1qtnf1	UTSW	11	118,338,930 (GRCm39)	splice site	probably null
R2902:C1qtnf1	UTSW	11	118,338,930 (GRCm39)	splice site	probably null
R4011:C1qtnf1	UTSW	11	118,337,365 (GRCm39)	missense	probably benign
R4897:C1qtnf1	UTSW	11	118,338,938 (GRCm39)	missense	probably damaging	1.00
R6335:C1qtnf1	UTSW	11	118,338,960 (GRCm39)	missense	probably damaging	1.00
R7250:C1qtnf1	UTSW	11	118,339,176 (GRCm39)	makesense	probably null
R8322:C1qtnf1	UTSW	11	118,338,683 (GRCm39)	missense	probably benign	0.00
R8558:C1qtnf1	UTSW	11	118,339,149 (GRCm39)	missense	probably damaging	0.99
R8679:C1qtnf1	UTSW	11	118,337,340 (GRCm39)	nonsense	probably null
R8920:C1qtnf1	UTSW	11	118,339,068 (GRCm39)	missense	possibly damaging	0.95
R9289:C1qtnf1	UTSW	11	118,334,672 (GRCm39)	missense	probably benign	0.00
X0021:C1qtnf1	UTSW	11	118,334,606 (GRCm39)	nonsense	probably null
Z1177:C1qtnf1	UTSW	11	118,334,580 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCAACAGCTCTGGTCGAGG -3'
(R):5'- GCTCAAAGCAATCACATCTGG -3'

Sequencing Primer
(F):5'- CTCTGGTCGAGGTGTGTG -3'
(R):5'- GCTCAAAGCAATCACATCTGGATCAC -3'

Posted On

2014-06-30