Mutagenetix > Incidental Mutation

Incidental Mutation 'R0829:Ccdc177'

78437

Institutional Source

Beutler Lab

Gene Symbol

Ccdc177

Ensembl Gene

ENSMUSG00000062961

Gene Name

coiled-coil domain containing 177

Synonyms

Gm1568, LOC380768

MMRRC Submission

039009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80802221-80807489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80806253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 7 (E7G)

Ref Sequence

ENSEMBL: ENSMUSP00000072982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073251]

AlphaFold

Q3UHB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000073251
AA Change: E7G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072982
Gene: ENSMUSG00000062961
AA Change: E7G

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	28	49	N/A	INTRINSIC
internal_repeat_1	116	139	2.91e-5	PROSPERO
low complexity region	146	159	N/A	INTRINSIC
low complexity region	165	227	N/A	INTRINSIC
low complexity region	229	263	N/A	INTRINSIC
Pfam:DUF4659	332	705	1.9e-115	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181092

Meta Mutation Damage Score

0.2214

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprh	C	A	16: 38,266,150 (GRCm39)	A331S	probably benign	Het
Atp4b	T	G	8: 13,440,098 (GRCm39)	T83P	probably damaging	Het
Cercam	G	T	2: 29,761,079 (GRCm39)	R126L	probably damaging	Het
Cpb1	C	T	3: 20,306,107 (GRCm39)		probably benign	Het
Dnah7a	T	C	1: 53,543,238 (GRCm39)	M2311V	probably benign	Het
Dnah9	C	A	11: 65,896,002 (GRCm39)	V2458L	probably benign	Het
Dnajb6	T	C	5: 29,990,020 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,202,301 (GRCm39)	T210A	probably damaging	Het
Gfpt1	T	C	6: 87,030,847 (GRCm39)		probably benign	Het
Grin1	C	T	2: 25,188,460 (GRCm39)	D429N	probably benign	Het
Iqck	T	C	7: 118,499,111 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,764,571 (GRCm39)	I359V	probably benign	Het
Lemd3	T	C	10: 120,814,988 (GRCm39)	T82A	probably benign	Het
Lrrc74b	A	G	16: 17,376,254 (GRCm39)		probably benign	Het
Mitf	A	T	6: 97,980,869 (GRCm39)	I246F	possibly damaging	Het
Msgn1	C	T	12: 11,258,525 (GRCm39)	R142Q	probably damaging	Het
Myh8	C	A	11: 67,174,326 (GRCm39)		probably benign	Het
Nacad	C	A	11: 6,551,158 (GRCm39)	V678L	probably benign	Het
Nomo1	A	G	7: 45,725,596 (GRCm39)		probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or1s2	T	A	19: 13,758,556 (GRCm39)	D191E	probably damaging	Het
Or4c100	A	T	2: 88,356,572 (GRCm39)	Y215F	probably damaging	Het
Or4l15	C	A	14: 50,198,503 (GRCm39)	V9L	probably benign	Het
Or6d13	A	G	6: 116,518,226 (GRCm39)	T271A	probably benign	Het
Pcdh15	T	A	10: 74,338,598 (GRCm39)	V1068E	probably damaging	Het
Plat	A	G	8: 23,262,273 (GRCm39)	Y99C	probably damaging	Het
Potefam1	G	A	2: 111,028,450 (GRCm39)	T42I	possibly damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rbm25	T	C	12: 83,707,150 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,316,570 (GRCm39)	D998G	probably damaging	Het
Serpinb6a	A	G	13: 34,119,684 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,687,899 (GRCm39)	I507M	probably benign	Het
Srebf2	T	A	15: 82,061,790 (GRCm39)		probably null	Het
Stimate	C	T	14: 30,584,842 (GRCm39)	R56C	probably damaging	Het
Tert	T	C	13: 73,792,504 (GRCm39)	C924R	probably damaging	Het
Usp19	T	C	9: 108,371,000 (GRCm39)	S221P	probably benign	Het
Xkr4	C	T	1: 3,741,469 (GRCm39)	A35T	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het

Other mutations in Ccdc177

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Ccdc177	APN	12	80,805,519 (GRCm39)	missense	unknown
IGL02433:Ccdc177	APN	12	80,804,372 (GRCm39)	missense	unknown
R1739:Ccdc177	UTSW	12	80,806,013 (GRCm39)	missense	probably damaging	1.00
R1970:Ccdc177	UTSW	12	80,805,486 (GRCm39)	missense	unknown
R2337:Ccdc177	UTSW	12	80,805,465 (GRCm39)	missense	unknown
R5001:Ccdc177	UTSW	12	80,804,160 (GRCm39)	missense	unknown
R5164:Ccdc177	UTSW	12	80,805,336 (GRCm39)	missense	unknown
R5249:Ccdc177	UTSW	12	80,805,282 (GRCm39)	missense	unknown
R5461:Ccdc177	UTSW	12	80,804,816 (GRCm39)	missense	unknown
R6802:Ccdc177	UTSW	12	80,806,057 (GRCm39)	missense	probably damaging	1.00
R7051:Ccdc177	UTSW	12	80,805,927 (GRCm39)	missense	probably damaging	0.98
R7412:Ccdc177	UTSW	12	80,805,792 (GRCm39)	missense	possibly damaging	0.85
R7510:Ccdc177	UTSW	12	80,804,457 (GRCm39)	missense	unknown
R7511:Ccdc177	UTSW	12	80,804,457 (GRCm39)	missense	unknown
R7712:Ccdc177	UTSW	12	80,804,712 (GRCm39)	nonsense	probably null
R8036:Ccdc177	UTSW	12	80,804,897 (GRCm39)	missense	unknown
R8693:Ccdc177	UTSW	12	80,804,582 (GRCm39)	missense	unknown
R8708:Ccdc177	UTSW	12	80,805,891 (GRCm39)	missense	probably benign	0.08
R8862:Ccdc177	UTSW	12	80,804,208 (GRCm39)	missense	unknown
R8894:Ccdc177	UTSW	12	80,806,077 (GRCm39)	missense	probably damaging	1.00
R9423:Ccdc177	UTSW	12	80,804,162 (GRCm39)	missense	unknown
R9727:Ccdc177	UTSW	12	80,806,044 (GRCm39)	missense	probably benign	0.04
Z1177:Ccdc177	UTSW	12	80,804,510 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAAGTCCTTCGAGCAACTCGC -3'
(R):5'- GCCCCTGAGCCTAATCTGAAATCG -3'

Sequencing Primer
(F):5'- ACCCTTCGGTGTGAACAG -3'
(R):5'- TCTGAAATCGGATTAAGTTGGGAG -3'

Posted On

2013-10-16