Mutagenetix > Incidental Mutation

Incidental Mutation 'R1705:C1ql2'

189996

Institutional Source

Beutler Lab

Gene Symbol

C1ql2

Ensembl Gene

ENSMUSG00000036907

Gene Name

complement component 1, q subcomponent-like 2

Synonyms

CTRP10

MMRRC Submission

039738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1705 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

120268312-120270903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120270271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 278 (T278A)

Ref Sequence

ENSEMBL: ENSMUSP00000037257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037286]

AlphaFold

Q8CFR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037286
AA Change: T278A

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

SMART Domains

Protein: ENSMUSP00000037257
Gene: ENSMUSG00000036907
AA Change: T278A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC
low complexity region	76	110	N/A	INTRINSIC
low complexity region	122	147	N/A	INTRINSIC
C1Q	152	287	5.84e-35	SMART

Meta Mutation Damage Score

0.6698

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

90% (43/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Apaf1	A	G	10: 90,903,133 (GRCm39)		probably benign	Het
Card14	A	G	11: 119,229,232 (GRCm39)	H714R	possibly damaging	Het
Catsperd	T	C	17: 56,940,521 (GRCm39)	F69S	probably damaging	Het
Cep250	A	G	2: 155,805,706 (GRCm39)	E105G	probably damaging	Het
Coil	A	G	11: 88,864,962 (GRCm39)	Y63C	probably damaging	Het
Cox14	A	G	15: 99,625,559 (GRCm39)		probably null	Het
Defa24	T	C	8: 22,224,617 (GRCm39)	I22T	probably damaging	Het
F5	T	C	1: 164,045,059 (GRCm39)	Y2116H	possibly damaging	Het
Faf1	C	T	4: 109,534,199 (GRCm39)		probably benign	Het
Hectd4	A	G	5: 121,436,167 (GRCm39)	S1026G	probably benign	Het
Hgf	A	T	5: 16,820,800 (GRCm39)	H649L	probably benign	Het
Hmces	T	C	6: 87,910,283 (GRCm39)	V231A	probably damaging	Het
Kcnh4	A	G	11: 100,632,598 (GRCm39)	V963A	probably benign	Het
Ltbp1	T	C	17: 75,692,196 (GRCm39)		probably null	Het
Meox2	G	A	12: 37,217,493 (GRCm39)		probably benign	Het
Mis18bp1	A	C	12: 65,196,113 (GRCm39)	S550R	probably benign	Het
Nap1l4	A	T	7: 143,095,497 (GRCm39)	M1K	probably null	Het
Nav1	G	T	1: 135,512,337 (GRCm39)	T241N	probably damaging	Het
Nbeal2	A	G	9: 110,454,264 (GRCm39)	W2694R	probably damaging	Het
Or11g2	A	T	14: 50,856,579 (GRCm39)	H300L	probably benign	Het
Or2b6	C	A	13: 21,823,331 (GRCm39)	D121Y	probably damaging	Het
Or4c52	A	T	2: 89,845,855 (GRCm39)	I194F	possibly damaging	Het
Phaf1	T	C	8: 105,965,104 (GRCm39)		probably benign	Het
Pld1	G	A	3: 28,125,426 (GRCm39)		probably null	Het
Podn	T	C	4: 107,875,055 (GRCm39)	R164G	probably benign	Het
Qrfprl	A	T	6: 65,433,290 (GRCm39)	H370L	probably benign	Het
R3hdm1	T	A	1: 128,162,821 (GRCm39)	L966Q	probably damaging	Het
Rasef	A	T	4: 73,662,301 (GRCm39)	Y369*	probably null	Het
Ryr1	A	T	7: 28,777,989 (GRCm39)	V2176E	probably damaging	Het
Sec14l2	A	G	11: 4,053,980 (GRCm39)	L229P	possibly damaging	Het
Sec23a	T	C	12: 59,048,652 (GRCm39)	S157G	possibly damaging	Het
Slit2	T	A	5: 48,346,814 (GRCm39)	W219R	probably damaging	Het
Smarcad1	G	A	6: 65,033,400 (GRCm39)	E128K	probably damaging	Het
Stk31	A	T	6: 49,400,318 (GRCm39)	N381I	possibly damaging	Het
Svop	A	G	5: 114,180,356 (GRCm39)	Y264H	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Ush2a	T	A	1: 188,607,066 (GRCm39)	I3987N	probably damaging	Het
Ush2a	T	A	1: 188,643,738 (GRCm39)	S4367T	probably benign	Het
Vdr	A	T	15: 97,765,052 (GRCm39)	V229D	probably damaging	Het
Ywhaz	G	T	15: 36,790,959 (GRCm39)	T88K	possibly damaging	Het
Zc3h10	A	T	10: 128,380,672 (GRCm39)	C228*	probably null	Het

Other mutations in C1ql2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:C1ql2	APN	1	120,269,399 (GRCm39)	missense	probably damaging	1.00
R1144:C1ql2	UTSW	1	120,270,266 (GRCm39)	missense	probably damaging	1.00
R4487:C1ql2	UTSW	1	120,269,409 (GRCm39)	missense	possibly damaging	0.60
R6063:C1ql2	UTSW	1	120,269,321 (GRCm39)	missense	probably benign	0.15
R6407:C1ql2	UTSW	1	120,269,340 (GRCm39)	missense	probably damaging	1.00
R6965:C1ql2	UTSW	1	120,268,944 (GRCm39)	missense	probably damaging	0.98
Z1176:C1ql2	UTSW	1	120,269,353 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GTTTACACTGAAGTAGCAGGCAGGG -3'
(R):5'- GATGTCAGGAAGTGTCATGAAGCCG -3'

Sequencing Primer
(F):5'- CTTGGACTCAGGAAGAGGTGC -3'
(R):5'- TCATGAAGCCGCAGAGTGAC -3'

Posted On

2014-05-14