Mutagenetix > Incidental Mutation

Incidental Mutation 'R1166:Ctf2'

101018

Institutional Source

Beutler Lab

Gene Symbol

Ctf2

Ensembl Gene

ENSMUSG00000060034

Gene Name

cardiotrophin 2

Synonyms

neuropoietin, NP, LOC244218

MMRRC Submission

039239-MU

Accession Numbers

Essential gene?

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

Stock #

R1166 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

127318132-127324788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127318685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 105 (T105A)

Ref Sequence

ENSEMBL: ENSMUSP00000075459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047393] [ENSMUST00000076091] [ENSMUST00000206038] [ENSMUST00000206506] [ENSMUST00000206997]

AlphaFold

P83714

Predicted Effect

probably benign
Transcript: ENSMUST00000047393

SMART Domains

Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340

Domain	Start	End	E-Value	Type
SCOP:d1cnt1_	21	197	1e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076091
AA Change: T105A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000075459
Gene: ENSMUSG00000060034
AA Change: T105A

Domain	Start	End	E-Value	Type
Pfam:CNTF	22	204	1.6e-15	PFAM
Pfam:PRF	31	204	1.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205655

Predicted Effect

probably benign
Transcript: ENSMUST00000206038
AA Change: T65A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206073

Predicted Effect

probably benign
Transcript: ENSMUST00000206506

Predicted Effect

probably benign
Transcript: ENSMUST00000206997

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.0%
20x: 86.3%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,547,880 (GRCm39)	K286R	probably benign	Het
Arhgef10l	T	C	4: 140,302,581 (GRCm39)		probably benign	Het
Ccdc175	T	G	12: 72,152,706 (GRCm39)	K733T	probably damaging	Het
Cenpn	T	G	8: 117,652,946 (GRCm39)	I39R	probably damaging	Het
Cfap53	A	T	18: 74,433,251 (GRCm39)	Y112F	possibly damaging	Het
Cngb1	C	A	8: 95,986,809 (GRCm39)	C361F	probably damaging	Het
Dnah7b	A	T	1: 46,364,970 (GRCm39)	T3584S	probably damaging	Het
Ebf3	C	T	7: 136,914,896 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,514,265 (GRCm39)		probably benign	Het
Fbxo17	T	A	7: 28,432,953 (GRCm39)	V158E	probably damaging	Het
Fbxw24	T	C	9: 109,436,066 (GRCm39)	E322G	probably benign	Het
Gm5698	G	T	1: 31,016,366 (GRCm39)	D228E	probably damaging	Het
Hfm1	A	T	5: 107,059,277 (GRCm39)	D248E	probably benign	Het
Insm2	T	C	12: 55,647,281 (GRCm39)	S342P	probably benign	Het
Krt36	G	A	11: 99,993,654 (GRCm39)	R395C	probably benign	Het
Lrrc37	A	G	11: 103,506,209 (GRCm39)	S1920P	probably benign	Het
Lsm14b	T	A	2: 179,673,334 (GRCm39)		probably benign	Het
Map1a	A	G	2: 121,130,741 (GRCm39)	E519G	probably damaging	Het
Mfsd14a	T	C	3: 116,427,543 (GRCm39)		probably benign	Het
Mfsd4b5	T	C	10: 39,846,419 (GRCm39)	Y387C	probably damaging	Het
Mybpc2	T	C	7: 44,154,449 (GRCm39)	N1063D	possibly damaging	Het
Nlrp10	T	A	7: 108,524,217 (GRCm39)	H421L	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4a81	A	G	2: 89,619,675 (GRCm39)	V7A	possibly damaging	Het
Pacrg	A	T	17: 10,622,268 (GRCm39)	Y235*	probably null	Het
Pde4dip	T	A	3: 97,620,512 (GRCm39)	D1629V	possibly damaging	Het
Prl8a2	G	T	13: 27,537,935 (GRCm39)	S204I	possibly damaging	Het
Sec24a	A	T	11: 51,624,294 (GRCm39)	M356K	possibly damaging	Het
Sh3tc2	A	C	18: 62,124,247 (GRCm39)	S972R	probably damaging	Het
Shc2	C	T	10: 79,456,946 (GRCm39)	V557M	probably damaging	Het
Slc2a9	A	G	5: 38,539,384 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,655,612 (GRCm39)	I455V	probably benign	Het
Umodl1	T	G	17: 31,221,772 (GRCm39)		probably benign	Het
Wdr27	T	C	17: 15,112,733 (GRCm39)	T658A	probably damaging	Het
Zfp318	T	C	17: 46,720,618 (GRCm39)	Y1119H	possibly damaging	Het
Zfp939	C	A	7: 39,122,763 (GRCm39)		noncoding transcript	Het

Other mutations in Ctf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2417:Ctf2	UTSW	7	127,318,759 (GRCm39)	missense	probably benign	0.01
R4574:Ctf2	UTSW	7	127,318,556 (GRCm39)	missense	possibly damaging	0.83
R4652:Ctf2	UTSW	7	127,318,556 (GRCm39)	missense	probably benign	0.00
R5519:Ctf2	UTSW	7	127,318,463 (GRCm39)	missense	probably benign	0.07
R6436:Ctf2	UTSW	7	127,318,603 (GRCm39)	missense	probably damaging	1.00
R7161:Ctf2	UTSW	7	127,318,476 (GRCm39)	missense	probably damaging	1.00
Z1176:Ctf2	UTSW	7	127,318,628 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

Posted On

2014-01-15