Mutagenetix > Incidental Mutation

Incidental Mutation 'R0282:Ccdc157'

37627

Institutional Source

Beutler Lab

Gene Symbol

Ccdc157

Ensembl Gene

ENSMUSG00000051427

Gene Name

coiled-coil domain containing 157

Synonyms

4930562D19Rik

MMRRC Submission

038504-MU

Accession Numbers

Essential gene?

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

Stock #

R0282 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

4091123-4110293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4096708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 449 (A449D)

Ref Sequence

ENSEMBL: ENSMUSP00000091074 (fasta)

Gene Model

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

AlphaFold

Q5SPX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000093381
AA Change: A449D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427
AA Change: A449D

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

possibly damaging
Transcript: ENSMUST00000101626
AA Change: A347D

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427
AA Change: A347D

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: ENSMUST00000132712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139099

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Afap1l2	A	G	19: 56,904,653 (GRCm39)	S549P	possibly damaging	Het
Alcam	A	T	16: 52,116,104 (GRCm39)	C157S	probably damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Ano8	G	A	8: 71,933,258 (GRCm39)		probably benign	Het
Atr	T	C	9: 95,744,851 (GRCm39)	V56A	probably benign	Het
Aurkc	T	A	7: 7,005,427 (GRCm39)		probably null	Het
Bnip3	T	C	7: 138,499,759 (GRCm39)	D76G	probably damaging	Het
Cbr1	A	G	16: 93,407,022 (GRCm39)	E246G	possibly damaging	Het
Ces3b	T	A	8: 105,810,483 (GRCm39)	V26D	probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crk	G	T	11: 75,594,195 (GRCm39)	G261C	probably damaging	Het
Ctbp1	A	G	5: 33,408,200 (GRCm39)		probably null	Het
Ctnna1	G	A	18: 35,377,175 (GRCm39)	V572I	possibly damaging	Het
D430041D05Rik	T	C	2: 104,031,589 (GRCm39)	Y1669C	probably damaging	Het
Dnah8	T	C	17: 30,955,130 (GRCm39)	F2053S	probably damaging	Het
Dner	G	A	1: 84,383,686 (GRCm39)	T566M	probably damaging	Het
Dner	A	G	1: 84,423,101 (GRCm39)		probably benign	Het
Edrf1	T	C	7: 133,245,751 (GRCm39)	V223A	probably benign	Het
Fam169a	A	G	13: 97,234,223 (GRCm39)		probably benign	Het
Fbxl3	G	A	14: 103,332,661 (GRCm39)	H106Y	probably damaging	Het
Fiz1	A	G	7: 5,012,200 (GRCm39)	V106A	probably benign	Het
Gapvd1	T	A	2: 34,578,972 (GRCm39)	R654*	probably null	Het
Gm7589	G	A	9: 59,053,288 (GRCm39)		noncoding transcript	Het
Ifi202b	A	T	1: 173,804,926 (GRCm39)	S9T	probably benign	Het
Ipmk	G	C	10: 71,208,661 (GRCm39)	S149T	probably benign	Het
Irgm2	A	G	11: 58,110,345 (GRCm39)	E24G	probably benign	Het
Itga2b	A	C	11: 102,351,672 (GRCm39)	V551G	probably damaging	Het
Itgad	C	T	7: 127,789,150 (GRCm39)		probably benign	Het
Kcnh8	T	A	17: 53,032,879 (GRCm39)	F55L	probably damaging	Het
Kdr	G	A	5: 76,110,760 (GRCm39)		probably benign	Het
Krt35	T	C	11: 99,986,573 (GRCm39)	Y147C	probably damaging	Het
Lamc1	A	G	1: 153,131,058 (GRCm39)	F298L	probably benign	Het
Lrrk2	T	C	15: 91,662,617 (GRCm39)		probably benign	Het
Matn1	T	C	4: 130,673,238 (GRCm39)	S69P	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,884 (GRCm39)	V257A	possibly damaging	Het
Mybpc3	G	C	2: 90,954,369 (GRCm39)		probably benign	Het
Mycn	A	G	12: 12,987,314 (GRCm39)	V361A	probably benign	Het
Myo10	A	G	15: 25,793,253 (GRCm39)	T1277A	probably damaging	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nup50l	T	C	6: 96,141,797 (GRCm39)	T416A	probably benign	Het
Or10g1	A	G	14: 52,647,720 (GRCm39)	V203A	possibly damaging	Het
Or2k2	A	G	4: 58,785,344 (GRCm39)	I126T	probably damaging	Het
Or4c104	G	A	2: 88,586,800 (GRCm39)	T73I	probably damaging	Het
Or56b1b	T	A	7: 108,164,684 (GRCm39)	Q106L	probably damaging	Het
Otog	C	T	7: 45,926,917 (GRCm39)	T1222I	possibly damaging	Het
P4ha1	C	T	10: 59,172,970 (GRCm39)	T23M	probably damaging	Het
Pld1	A	T	3: 28,132,422 (GRCm39)	I537F	probably benign	Het
Plekhn1	A	G	4: 156,312,780 (GRCm39)		probably benign	Het
Pxdn	C	A	12: 30,034,439 (GRCm39)	S8*	probably null	Het
Rnf135	A	T	11: 80,084,784 (GRCm39)	I186F	probably damaging	Het
Rock2	T	C	12: 17,027,887 (GRCm39)		probably benign	Het
Rph3a	C	A	5: 121,101,973 (GRCm39)	G88*	probably null	Het
Sarm1	G	A	11: 78,365,806 (GRCm39)	Q740*	probably null	Het
Setd1b	C	A	5: 123,299,080 (GRCm39)		probably benign	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Slc2a4	A	T	11: 69,837,181 (GRCm39)	V85E	probably damaging	Het
Swi5	A	G	2: 32,170,766 (GRCm39)	Y54H	probably damaging	Het
Sycp1	A	G	3: 102,823,111 (GRCm39)		probably benign	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tmem67	G	A	4: 12,087,930 (GRCm39)	T72M	probably damaging	Het
Tor1a	A	G	2: 30,857,737 (GRCm39)	Y44H	possibly damaging	Het
Ttll5	T	C	12: 86,042,827 (GRCm39)	Y1128H	probably benign	Het
Usp40	G	A	1: 87,908,680 (GRCm39)		probably benign	Het
Vmn2r18	A	T	5: 151,508,668 (GRCm39)	M152K	probably benign	Het
Xirp2	T	A	2: 67,343,724 (GRCm39)	D1988E	probably damaging	Het
Zfp420	A	G	7: 29,575,105 (GRCm39)	I442V	probably benign	Het
Zyx	A	G	6: 42,332,939 (GRCm39)	E363G	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
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

Predicted Primers

PCR Primer
(F):5'- AATGCTAGAGGCTCCTCAGAGGTG -3'
(R):5'- CTGGACTTATCCCAACGGGCATAC -3'

Sequencing Primer
(F):5'- CCTCAGAGGTGAGGATTGC -3'
(R):5'- GGGCATACATCTACCTGCTG -3'

Posted On

2013-05-23