Mutagenetix > Incidental Mutation

Incidental Mutation 'R5397:C1qtnf3'

429770

Institutional Source

Beutler Lab

Gene Symbol

C1qtnf3

Ensembl Gene

ENSMUSG00000058914

Gene Name

C1q and tumor necrosis factor related protein 3

Synonyms

CTRP3, CORS-26, 2310005P21Rik, Corcs

MMRRC Submission

042968-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5397 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10952418-10980236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10978627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 276 (T276A)

Ref Sequence

ENSEMBL: ENSMUSP00000106152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022853] [ENSMUST00000070877] [ENSMUST00000110523]

AlphaFold

Q9ES30

Predicted Effect

probably benign
Transcript: ENSMUST00000022853
AA Change: T203A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022853
Gene: ENSMUSG00000058914
AA Change: T203A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	54	75	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
C1Q	111	245	2.26e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070877

SMART Domains

Protein: ENSMUSP00000066915
Gene: ENSMUSG00000022244

Domain	Start	End	E-Value	Type
Pfam:CoA_transf_3	3	349	1.6e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110523
AA Change: T276A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106152
Gene: ENSMUSG00000058914
AA Change: T276A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	127	148	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
C1Q	184	318	2.26e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228886

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to collagen-induced arthritis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,243,803 (GRCm38)	T518A	probably benign	Het
Acvr1b	T	A	15: 101,096,845 (GRCm39)	V254D	probably damaging	Het
Adar	T	C	3: 89,642,626 (GRCm39)	I169T	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arap1	A	T	7: 101,034,119 (GRCm39)	Q187L	possibly damaging	Het
Atad5	T	A	11: 80,002,319 (GRCm39)	M1037K	probably damaging	Het
Bsg	T	A	10: 79,544,629 (GRCm39)	W56R	probably damaging	Het
Capn2	A	G	1: 182,298,271 (GRCm39)	C665R	probably damaging	Het
Cast	A	G	13: 74,869,056 (GRCm39)	S248P	possibly damaging	Het
Cd68	C	T	11: 69,556,484 (GRCm39)	V108I	probably benign	Het
Cyp2d11	A	T	15: 82,276,279 (GRCm39)	W131R	probably damaging	Het
Dhx58	A	G	11: 100,594,746 (GRCm39)	V50A	probably damaging	Het
Fam124a	A	G	14: 62,843,838 (GRCm39)	S449G	probably benign	Het
Flnc	G	A	6: 29,441,160 (GRCm39)	M371I	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpr149	A	G	3: 62,438,226 (GRCm39)	S644P	probably damaging	Het
Gucy1b1	G	A	3: 81,951,458 (GRCm39)	T274I	possibly damaging	Het
Kcnq5	A	G	1: 21,476,080 (GRCm39)	V541A	probably damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Lig4	G	T	8: 10,022,644 (GRCm39)	R379S	probably benign	Het
Map7	G	A	10: 20,149,067 (GRCm39)	R514Q	unknown	Het
Mertk	T	A	2: 128,613,384 (GRCm39)	F467I	possibly damaging	Het
Mettl4	A	T	17: 95,034,705 (GRCm39)	Y463*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Nme8	T	C	13: 19,878,549 (GRCm39)	D70G	probably damaging	Het
Npat	A	G	9: 53,481,774 (GRCm39)	N1161D	probably damaging	Het
Or4k77	T	A	2: 111,199,285 (GRCm39)	C103S	probably benign	Het
Or51ac3	T	A	7: 103,213,713 (GRCm39)	I258F	probably damaging	Het
Or6c76b	T	C	10: 129,692,579 (GRCm39)	F64S	probably damaging	Het
Paxip1	A	T	5: 27,977,002 (GRCm39)		probably benign	Het
Peg10	C	CTCG	6: 4,756,453 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,679,614 (GRCm39)	T923A	probably benign	Het
Pms1	T	A	1: 53,231,279 (GRCm39)	K857*	probably null	Het
Ppp1r9b	A	G	11: 94,892,936 (GRCm39)	E260G	probably damaging	Het
Prpf3	A	T	3: 95,760,891 (GRCm39)	S4T	probably benign	Het
Rdh14	T	A	12: 10,444,869 (GRCm39)	V240D	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
S100a1	A	T	3: 90,419,442 (GRCm39)	M1K	probably null	Het
Slc2a5	G	A	4: 150,224,280 (GRCm39)		probably null	Het
Slc5a5	T	C	8: 71,343,823 (GRCm39)	T160A	probably damaging	Het
Srcap	T	G	7: 127,152,468 (GRCm39)		probably null	Het
Tgm6	T	A	2: 129,983,828 (GRCm39)	M329K	possibly damaging	Het
Tom1l1	G	A	11: 90,552,600 (GRCm39)	A201V	probably benign	Het
Trgv5	A	C	13: 19,376,728 (GRCm39)	E42D	possibly damaging	Het
Ttc13	T	C	8: 125,402,002 (GRCm39)	T662A	possibly damaging	Het
Ttn	T	C	2: 76,555,599 (GRCm39)	T30469A	probably damaging	Het
Ube3a	T	A	7: 58,936,660 (GRCm39)	S645R	probably benign	Het
Vgll2	A	G	10: 51,901,262 (GRCm39)	E64G	probably damaging	Het
Vmn1r25	A	T	6: 57,956,060 (GRCm39)	C76*	probably null	Het
Vmn2r101	A	G	17: 19,809,104 (GRCm39)	N78D	probably damaging	Het
Zcchc10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 53,223,344 (GRCm39)		probably benign	Het
Zcchc7	C	A	4: 44,926,048 (GRCm39)	A28E	probably damaging	Het

Other mutations in C1qtnf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:C1qtnf3	APN	15	10,960,768 (GRCm39)	missense	probably damaging	1.00
IGL02491:C1qtnf3	APN	15	10,972,067 (GRCm39)	missense	possibly damaging	0.69
mimosa_pudica	UTSW	15	10,958,156 (GRCm39)	critical splice donor site	probably null
R0083:C1qtnf3	UTSW	15	10,975,718 (GRCm39)	missense	possibly damaging	0.89
R1136:C1qtnf3	UTSW	15	10,978,670 (GRCm39)	missense	probably damaging	0.98
R1447:C1qtnf3	UTSW	15	10,952,735 (GRCm39)	missense	probably damaging	1.00
R1510:C1qtnf3	UTSW	15	10,975,722 (GRCm39)	missense	probably benign	0.05
R4536:C1qtnf3	UTSW	15	10,972,113 (GRCm39)	missense	probably damaging	0.98
R5833:C1qtnf3	UTSW	15	10,975,716 (GRCm39)	missense	probably benign	0.06
R6483:C1qtnf3	UTSW	15	10,958,156 (GRCm39)	critical splice donor site	probably null
R6555:C1qtnf3	UTSW	15	10,975,742 (GRCm39)	missense	probably damaging	0.99
R7324:C1qtnf3	UTSW	15	10,952,707 (GRCm39)	missense	probably benign	0.04
R7456:C1qtnf3	UTSW	15	10,972,137 (GRCm39)	missense	probably benign	0.02
R7772:C1qtnf3	UTSW	15	10,958,130 (GRCm39)	missense	possibly damaging	0.75
R8765:C1qtnf3	UTSW	15	10,952,843 (GRCm39)	critical splice donor site	probably null
R9281:C1qtnf3	UTSW	15	10,978,607 (GRCm39)	missense	probably benign	0.05
R9608:C1qtnf3	UTSW	15	10,952,568 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GTTGATCATCTAGAGGCAAGGG -3'
(R):5'- AGCTCAGCTATAAATTGCCCC -3'

Sequencing Primer
(F):5'- AGGAGGTAGGTTTTAATAGACAGTTC -3'
(R):5'- CCAAAGTGGAGATATCCTGTCTTC -3'

Posted On

2016-09-06