Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02267:Ccdc157'

286937

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc157

Ensembl Gene

ENSMUSG00000051427

Gene Name

coiled-coil domain containing 157

Synonyms

4930562D19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02267

Quality Score

Status

Chromosome

Chromosomal Location

4091123-4110293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4094035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 532 (A532V)

Ref Sequence

ENSEMBL: ENSMUSP00000099148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003677] [ENSMUST00000093381] [ENSMUST00000101626]

AlphaFold

Q5SPX1

Predicted Effect

probably benign
Transcript: ENSMUST00000003677

SMART Domains

Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581

Domain	Start	End	E-Value	Type
signal peptide	1	45	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	149	162	N/A	INTRINSIC
low complexity region	274	285	N/A	INTRINSIC
RING	327	367	6.89e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093381
AA Change: A634V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427
AA Change: A634V

Domain	Start	End	E-Value	Type
low complexity region	76	88	N/A	INTRINSIC
low complexity region	321	343	N/A	INTRINSIC
low complexity region	385	414	N/A	INTRINSIC
SCOP:d1fxkc_	452	595	4e-5	SMART
low complexity region	639	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101626
AA Change: A532V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427
AA Change: A532V

Domain	Start	End	E-Value	Type
low complexity region	219	241	N/A	INTRINSIC
low complexity region	283	312	N/A	INTRINSIC
SCOP:d1fxkc_	350	493	3e-4	SMART
low complexity region	537	557	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175339

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,683,505 (GRCm39)	Q929R	probably benign	Het
Aplf	A	T	6: 87,635,946 (GRCm39)	D122E	probably damaging	Het
Atp2a3	T	A	11: 72,878,810 (GRCm39)	L874Q	probably damaging	Het
Atp2b2	A	T	6: 113,770,691 (GRCm39)	L406Q	probably damaging	Het
Atp6v1b1	A	G	6: 83,733,891 (GRCm39)	D374G	probably benign	Het
Bcas1	T	A	2: 170,220,708 (GRCm39)	R239*	probably null	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Cd300lb	G	A	11: 114,819,303 (GRCm39)	R109*	probably null	Het
Clca4c-ps	T	C	3: 144,585,516 (GRCm39)		noncoding transcript	Het
Ctnna3	G	T	10: 64,781,777 (GRCm39)	V747F	probably benign	Het
Cyp2c29	A	T	19: 39,318,866 (GRCm39)	I488F	probably benign	Het
Cyp3a25	T	C	5: 145,935,362 (GRCm39)	M85V	possibly damaging	Het
Dnah7b	T	A	1: 46,266,090 (GRCm39)	Y2220N	probably damaging	Het
Espl1	A	G	15: 102,224,099 (GRCm39)	I1217V	probably benign	Het
Exoc2	A	G	13: 30,999,304 (GRCm39)	S918P	probably benign	Het
Fer1l4	T	A	2: 155,873,172 (GRCm39)	I1303F	possibly damaging	Het
Gm28047	A	T	15: 102,455,662 (GRCm39)	I234K	probably damaging	Het
Gpcpd1	A	G	2: 132,410,630 (GRCm39)	V19A	probably damaging	Het
Gprin3	A	G	6: 59,331,458 (GRCm39)	V283A	probably benign	Het
Grb14	A	G	2: 64,783,960 (GRCm39)	Y56H	probably damaging	Het
Greb1	A	G	12: 16,767,209 (GRCm39)	F331S	probably benign	Het
Iigp1c	T	G	18: 60,379,470 (GRCm39)	V335G	probably damaging	Het
Jkamp	A	G	12: 72,141,591 (GRCm39)	Y198C	probably damaging	Het
Klk1b11	G	T	7: 43,649,165 (GRCm39)	C234F	probably damaging	Het
Nacad	T	C	11: 6,552,649 (GRCm39)	T181A	probably benign	Het
Or1e23	A	G	11: 73,407,375 (GRCm39)	S217P	probably benign	Het
Or2m13	A	T	16: 19,225,914 (GRCm39)	L285Q	possibly damaging	Het
Or5ak4	T	A	2: 85,161,465 (GRCm39)	Y259F	probably damaging	Het
Pitpnm3	A	T	11: 71,962,274 (GRCm39)	I227N	probably benign	Het
Pnn	A	G	12: 59,116,995 (GRCm39)	E189G	probably damaging	Het
Pnpla2	C	A	7: 141,038,122 (GRCm39)	P197T	probably damaging	Het
Pnpla6	A	G	8: 3,567,327 (GRCm39)	T62A	probably benign	Het
Ptprq	G	T	10: 107,482,419 (GRCm39)	D1051E	probably damaging	Het
Rag2	C	T	2: 101,460,376 (GRCm39)	R229C	probably damaging	Het
Serinc1	A	T	10: 57,399,204 (GRCm39)	I196N	probably damaging	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc26a9	T	C	1: 131,680,583 (GRCm39)	C43R	probably damaging	Het
Slc2a3	A	T	6: 122,716,931 (GRCm39)	Y44N	probably benign	Het
Smad5	T	G	13: 56,883,603 (GRCm39)		probably benign	Het
Sugct	C	A	13: 17,819,450 (GRCm39)	V132F	possibly damaging	Het
Supt6	T	C	11: 78,117,030 (GRCm39)	E568G	possibly damaging	Het
Tfpt	T	C	7: 3,631,982 (GRCm39)	T43A	probably damaging	Het
Timp4	A	T	6: 115,224,240 (GRCm39)	V143E	possibly damaging	Het
Tns1	T	C	1: 74,031,290 (GRCm39)	D275G	possibly damaging	Het
Trib1	A	G	15: 59,523,449 (GRCm39)	E161G	probably damaging	Het
Trpc7	A	T	13: 57,008,743 (GRCm39)	L308Q	probably damaging	Het
Ush1c	A	T	7: 45,858,722 (GRCm39)	V522E	possibly damaging	Het
Usp28	T	C	9: 48,935,265 (GRCm39)	V449A	probably damaging	Het
Vmn1r82	A	G	7: 12,039,273 (GRCm39)	Y64C	probably damaging	Het
Wwox	G	A	8: 115,438,805 (GRCm39)	M290I	probably benign	Het

Other mutations in Ccdc157

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Ccdc157	APN	11	4,098,781 (GRCm39)	missense	probably damaging	1.00
IGL03182:Ccdc157	APN	11	4,101,832 (GRCm39)	missense	probably damaging	1.00
R0282:Ccdc157	UTSW	11	4,096,708 (GRCm39)	missense	probably damaging	0.98
R0360:Ccdc157	UTSW	11	4,096,663 (GRCm39)	missense	probably damaging	0.98
R1349:Ccdc157	UTSW	11	4,099,056 (GRCm39)	missense	probably benign	0.20
R1527:Ccdc157	UTSW	11	4,101,795 (GRCm39)	missense	probably damaging	1.00
R1691:Ccdc157	UTSW	11	4,099,030 (GRCm39)	missense	probably benign	0.07
R1932:Ccdc157	UTSW	11	4,096,549 (GRCm39)	missense	probably damaging	1.00
R2132:Ccdc157	UTSW	11	4,100,004 (GRCm39)	missense	probably damaging	1.00
R4361:Ccdc157	UTSW	11	4,096,550 (GRCm39)	missense	probably damaging	0.99
R4754:Ccdc157	UTSW	11	4,098,994 (GRCm39)	missense	possibly damaging	0.46
R4786:Ccdc157	UTSW	11	4,101,861 (GRCm39)	missense	probably damaging	1.00
R5314:Ccdc157	UTSW	11	4,100,078 (GRCm39)	nonsense	probably null
R5564:Ccdc157	UTSW	11	4,098,765 (GRCm39)	missense	probably damaging	1.00
R5625:Ccdc157	UTSW	11	4,101,888 (GRCm39)	missense	probably damaging	0.99
R5898:Ccdc157	UTSW	11	4,094,538 (GRCm39)	missense	probably benign	0.23
R6193:Ccdc157	UTSW	11	4,101,912 (GRCm39)	missense	probably damaging	1.00
R6936:Ccdc157	UTSW	11	4,094,030 (GRCm39)	missense	probably benign
R7057:Ccdc157	UTSW	11	4,094,586 (GRCm39)	missense	probably benign	0.33
R7113:Ccdc157	UTSW	11	4,098,889 (GRCm39)	missense	possibly damaging	0.94
R7136:Ccdc157	UTSW	11	4,098,592 (GRCm39)	missense	possibly damaging	0.94
R9601:Ccdc157	UTSW	11	4,094,598 (GRCm39)	missense	probably damaging	0.97
T0975:Ccdc157	UTSW	11	4,096,246 (GRCm39)	missense	probably damaging	0.99
Z1177:Ccdc157	UTSW	11	4,096,547 (GRCm39)	nonsense	probably null

Posted On

2015-04-16