Mutagenetix > Incidental Mutation

Incidental Mutation 'R4361:Ccdc157'

324921

Institutional Source

Beutler Lab

Gene Symbol

Ccdc157

Ensembl Gene

ENSMUSG00000051427

Gene Name

coiled-coil domain containing 157

Synonyms

4930562D19Rik

MMRRC Submission

041112-MU

Accession Numbers

Essential gene?

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

Stock #

R4361 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4091123-4110293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4096550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 400 (A400T)

Ref Sequence

ENSEMBL: ENSMUSP00000099148 (fasta)

Gene Model

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

AlphaFold

Q5SPX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000093381
AA Change: A502T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427
AA Change: A502T

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 damaging
Transcript: ENSMUST00000101626
AA Change: A400T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427
AA Change: A400T

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

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,688 (GRCm39)	T538A	probably damaging	Het
4930578I07Rik	T	C	14: 67,175,850 (GRCm39)		noncoding transcript	Het
Aadac	T	A	3: 59,947,182 (GRCm39)	S293R	probably benign	Het
Cc2d1b	G	A	4: 108,481,947 (GRCm39)		probably benign	Het
Cdc42ep5	A	G	7: 4,154,779 (GRCm39)	V3A	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,865 (GRCm39)	M232L	possibly damaging	Het
Dhrs2	G	A	14: 55,478,646 (GRCm39)	D264N	probably damaging	Het
Dram2	T	C	3: 106,473,531 (GRCm39)		probably benign	Het
Dtx4	C	A	19: 12,462,660 (GRCm39)	S373I	probably benign	Het
Eif4a1	G	A	11: 69,558,290 (GRCm39)		probably benign	Het
Eps15	T	C	4: 109,237,228 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,676 (GRCm39)	Q235L	probably damaging	Het
Fgfr3	T	C	5: 33,880,676 (GRCm39)		probably benign	Het
Gabra4	C	T	5: 71,790,888 (GRCm39)		probably null	Het
Gins1	A	G	2: 150,767,821 (GRCm39)	Y117C	probably damaging	Het
Gm12253	T	A	11: 58,325,687 (GRCm39)	S53T	probably benign	Het
Gne	C	A	4: 44,059,947 (GRCm39)	A149S	possibly damaging	Het
Gpc2	A	T	5: 138,276,552 (GRCm39)	C191*	probably null	Het
Has2	G	T	15: 56,545,344 (GRCm39)	A86E	probably damaging	Het
Ift80	A	T	3: 68,870,982 (GRCm39)	S205T	probably damaging	Het
Irx5	G	T	8: 93,085,025 (GRCm39)	A72S	probably damaging	Het
Kcnmb4	A	T	10: 116,309,410 (GRCm39)	V6E	probably benign	Het
Kcnt1	A	T	2: 25,768,044 (GRCm39)	Q51L	probably benign	Het
Klk1b11	A	G	7: 43,645,378 (GRCm39)		probably null	Het
Kmt2d	T	G	15: 98,761,551 (GRCm39)	M600L	unknown	Het
Lmtk2	T	A	5: 144,084,482 (GRCm39)	S172R	probably damaging	Het
Lrrc37	CTTTT	CTTTTT	11: 103,508,327 (GRCm39)		probably null	Het
Lrrc46	G	A	11: 96,925,496 (GRCm39)		probably benign	Het
Mab21l2	C	T	3: 86,454,497 (GRCm39)	V168M	probably damaging	Het
Magea3	A	C	X: 153,731,850 (GRCm39)	C218G	possibly damaging	Het
Magea3	C	A	X: 153,731,849 (GRCm39)	C218F	probably benign	Het
Man1a2	T	C	3: 100,563,358 (GRCm39)	K96E	probably benign	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myf6	GGGGGCAG	GG	10: 107,330,293 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nav1	G	A	1: 135,535,175 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,688,847 (GRCm39)	K477E	probably damaging	Het
Nup98	T	A	7: 101,794,921 (GRCm39)	H862L	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcnx2	G	T	8: 126,495,037 (GRCm39)	S1608*	probably null	Het
Pramel16	A	G	4: 143,677,433 (GRCm39)	F49L	possibly damaging	Het
Ren1	A	G	1: 133,286,779 (GRCm39)	I303V	probably benign	Het
Retreg3	T	A	11: 100,994,713 (GRCm39)		probably null	Het
Rnf6	C	A	5: 146,148,089 (GRCm39)	V310F	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scrn2	C	T	11: 96,923,064 (GRCm39)	A169V	probably null	Het
Slc4a10	T	C	2: 62,073,729 (GRCm39)	S264P	probably benign	Het
Tex26	A	T	5: 149,384,388 (GRCm39)	Q102L	probably benign	Het
Tex38	A	G	4: 115,637,420 (GRCm39)	S128P	probably benign	Het
Trmt1l	A	G	1: 151,311,626 (GRCm39)		probably benign	Het
Tyr	G	T	7: 87,078,284 (GRCm39)	H525Q	probably benign	Het
Veph1	T	C	3: 66,066,737 (GRCm39)	N417S	probably benign	Het
Zfp597	A	T	16: 3,683,764 (GRCm39)	S331T	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
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'- GTAGCTCAGAGATGGTCAGCTG -3'
(R):5'- TTTAGTCCCTGCAGGCCAAG -3'

Sequencing Primer
(F):5'- TCAGCTGCAGGTCTGTAGTCAC -3'
(R):5'- GCCAAGCAGAGGACTTTGCTAC -3'

Posted On

2015-07-06