Mutagenetix > Incidental Mutation

Incidental Mutation 'R6936:Ccdc157'

540310

Institutional Source

Beutler Lab

Gene Symbol

Ccdc157

Ensembl Gene

ENSMUSG00000051427

Gene Name

coiled-coil domain containing 157

Synonyms

4930562D19Rik

MMRRC Submission

045050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4091123-4110293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4094030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 534 (S534P)

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: S636P

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

SMART Domains

Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427
AA Change: S636P

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: S534P

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

SMART Domains

Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427
AA Change: S534P

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.7%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,568 (GRCm39)	I2772F	probably damaging	Het
Adam1a	A	G	5: 121,657,425 (GRCm39)	C623R	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ak4	C	T	4: 101,304,456 (GRCm39)	A82V	probably benign	Het
Arhgap10	A	T	8: 78,037,376 (GRCm39)	C617*	probably null	Het
Art1	A	T	7: 101,755,977 (GRCm39)	D56V	possibly damaging	Het
Ascc3	A	G	10: 50,606,057 (GRCm39)	D1392G	probably damaging	Het
Bbs5	T	C	2: 69,484,698 (GRCm39)	S123P	probably damaging	Het
Cabin1	A	T	10: 75,551,592 (GRCm39)		probably null	Het
Carmil3	G	A	14: 55,739,018 (GRCm39)	E891K	probably benign	Het
Cbfa2t3	C	G	8: 123,374,478 (GRCm39)	R89P	probably damaging	Het
Cep72	A	T	13: 74,188,206 (GRCm39)	I229N	probably damaging	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Cyp2c70	A	G	19: 40,156,007 (GRCm39)	V181A	probably damaging	Het
Cyp2d26	C	T	15: 82,676,741 (GRCm39)	D202N	probably benign	Het
Dbh	A	G	2: 27,062,809 (GRCm39)	K343E	probably benign	Het
Dlx5	A	G	6: 6,879,585 (GRCm39)	Y161H	probably damaging	Het
Dnah5	A	T	15: 28,409,414 (GRCm39)	I3611F	probably damaging	Het
Egf	A	C	3: 129,474,853 (GRCm39)	F563V	possibly damaging	Het
Enpp1	T	C	10: 24,527,237 (GRCm39)	H650R	probably benign	Het
Exoc6	A	G	19: 37,560,311 (GRCm39)	I109M	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgg	C	T	3: 82,915,727 (GRCm39)	S56F	possibly damaging	Het
Fras1	A	G	5: 96,916,211 (GRCm39)	D3415G	possibly damaging	Het
Ghsr	A	G	3: 27,426,474 (GRCm39)	I177V	probably benign	Het
Gm1979	A	T	5: 26,207,028 (GRCm39)	H62Q	probably benign	Het
Gpatch2	A	G	1: 186,965,433 (GRCm39)	D313G	probably benign	Het
Gtf2i	C	T	5: 134,271,639 (GRCm39)	E823K	probably damaging	Het
Hook2	C	A	8: 85,729,627 (GRCm39)	T689N	probably benign	Het
Hrnr	A	T	3: 93,239,667 (GRCm39)	N3302Y	unknown	Het
Igkv7-33	G	A	6: 70,035,785 (GRCm39)	P66S	possibly damaging	Het
Kcnh2	T	A	5: 24,529,337 (GRCm39)	I800F	probably damaging	Het
Mcmbp	G	A	7: 128,326,920 (GRCm39)	Q21*	probably null	Het
Mmp21	T	C	7: 133,280,704 (GRCm39)	K89E	probably benign	Het
Or4b13	A	G	2: 90,082,678 (GRCm39)	V218A	probably benign	Het
Or52r1c	A	T	7: 102,735,021 (GRCm39)	I94F	probably damaging	Het
Pcdhga4	A	G	18: 37,820,458 (GRCm39)	D669G	possibly damaging	Het
Ralgapa1	T	C	12: 55,832,997 (GRCm39)	T169A	probably damaging	Het
Sec31a	T	C	5: 100,540,369 (GRCm39)	N35S	probably benign	Het
Serpinb5	A	T	1: 106,798,148 (GRCm39)	T46S	probably benign	Het
Svs5	A	G	2: 164,079,548 (GRCm39)	S120P	possibly damaging	Het
Tbpl2	T	C	2: 23,984,953 (GRCm39)	T64A	probably benign	Het
Tecpr2	T	A	12: 110,911,297 (GRCm39)	H1111Q	possibly damaging	Het
Tm9sf3	A	G	19: 41,211,638 (GRCm39)	F402L	probably benign	Het
Tmem120b	T	G	5: 123,254,287 (GRCm39)	V287G	possibly damaging	Het
Tmem150c	T	C	5: 100,231,577 (GRCm39)	T133A	possibly damaging	Het
Ubqln3	A	T	7: 103,791,517 (GRCm39)	V191D	probably damaging	Het
Ubr2	T	C	17: 47,283,957 (GRCm39)	E564G	possibly damaging	Het
Zkscan1	T	C	5: 138,091,567 (GRCm39)	V100A	probably damaging	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
IGL02267:Ccdc157	APN	11	4,094,035 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGATGCTGAATGACTTCCATCC -3'
(R):5'- AGCTTGGGATTCTGCCTCTC -3'

Sequencing Primer
(F):5'- TCCCCCAAAGAGAACTTGCTGG -3'
(R):5'- GCTTGGGATTCTGCCTCTCTATCTAC -3'

Posted On

2018-11-06