Mutagenetix > Incidental Mutation

Incidental Mutation 'R5461:Ccdc177'

482190

Institutional Source

Beutler Lab

Gene Symbol

Ccdc177

Ensembl Gene

ENSMUSG00000062961

Gene Name

coiled-coil domain containing 177

Synonyms

Gm1568, LOC380768

MMRRC Submission

043023-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5461 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80802221-80807489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80804816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 486 (A486V)

Ref Sequence

ENSEMBL: ENSMUSP00000072982 (fasta)

Gene Model

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

AlphaFold

Q3UHB8

Predicted Effect

unknown
Transcript: ENSMUST00000073251
AA Change: A486V

SMART Domains

Protein: ENSMUSP00000072982
Gene: ENSMUSG00000062961
AA Change: A486V

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

0.0582

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,643 (GRCm39)	I405K	possibly damaging	Het
4930562C15Rik	G	A	16: 4,682,227 (GRCm39)	G180E	probably damaging	Het
Adgrg6	A	T	10: 14,296,248 (GRCm39)	W1079R	probably damaging	Het
Arsa	T	C	15: 89,357,478 (GRCm39)	H495R	probably benign	Het
Bptf	T	C	11: 106,952,590 (GRCm39)	T2088A	probably damaging	Het
Brsk2	T	C	7: 141,541,643 (GRCm39)	L152P	probably damaging	Het
C8a	T	C	4: 104,673,042 (GRCm39)		probably benign	Het
Cpa2	A	G	6: 30,544,180 (GRCm39)	T38A	probably benign	Het
Crim1	T	G	17: 78,545,236 (GRCm39)	C133G	probably damaging	Het
Dnah2	C	T	11: 69,364,177 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,824,550 (GRCm39)	Q2392*	probably null	Het
Exoc2	C	T	13: 31,109,738 (GRCm39)	S210N	possibly damaging	Het
Gm7003	A	G	12: 113,766,847 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,245,863 (GRCm39)	K2192R	probably damaging	Het
Ica1l	T	C	1: 60,053,010 (GRCm39)	D176G	probably damaging	Het
Ints10	G	A	8: 69,246,693 (GRCm39)	E8K	possibly damaging	Het
Itgb8	T	C	12: 119,131,740 (GRCm39)	E635G	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,897,887 (GRCm39)	H429R	probably benign	Het
Mcm3	T	C	1: 20,884,661 (GRCm39)	I281V	probably benign	Het
Msi1	T	C	5: 115,579,450 (GRCm39)	S200P	possibly damaging	Het
Nat3	T	C	8: 68,000,514 (GRCm39)	L131P	probably damaging	Het
Ncor2	T	C	5: 125,104,177 (GRCm39)	E1752G	probably damaging	Het
Nnt	C	T	13: 119,505,131 (GRCm39)	A414T	possibly damaging	Het
Nrp2	C	T	1: 62,786,370 (GRCm39)	Q292*	probably null	Het
Or51ah3	T	A	7: 103,209,780 (GRCm39)	L32Q	probably damaging	Het
Or52k2	G	A	7: 102,253,615 (GRCm39)	G18D	probably damaging	Het
Otop1	A	T	5: 38,457,059 (GRCm39)	I273F	probably damaging	Het
Phactr3	T	A	2: 177,920,694 (GRCm39)	N177K	probably benign	Het
Pik3c2b	C	T	1: 133,027,440 (GRCm39)	T1313I	possibly damaging	Het
Pikfyve	C	A	1: 65,274,192 (GRCm39)	D677E	probably damaging	Het
Poc1a	T	C	9: 106,165,209 (GRCm39)	F157L	probably damaging	Het
Prodh2	G	T	7: 30,193,948 (GRCm39)	R185L	possibly damaging	Het
Rcc1	T	C	4: 132,061,497 (GRCm39)	I350M	probably benign	Het
Rhd	G	A	4: 134,611,928 (GRCm39)	A249T	probably damaging	Het
Rtf2	A	G	2: 172,287,252 (GRCm39)	Y57C	probably damaging	Het
Shmt1	A	G	11: 60,685,725 (GRCm39)	S284P	possibly damaging	Het
Shpk	T	C	11: 73,090,361 (GRCm39)	V6A	probably benign	Het
Slc4a5	T	C	6: 83,262,836 (GRCm39)	V661A	probably benign	Het
Spesp1	A	T	9: 62,180,014 (GRCm39)	L298Q	probably damaging	Het
Tas1r2	C	A	4: 139,387,320 (GRCm39)	Q231K	probably benign	Het
Tcp11l1	T	C	2: 104,518,856 (GRCm39)	Y280C	probably benign	Het
Tnip1	T	C	11: 54,801,625 (GRCm39)		probably benign	Het
Topbp1	T	A	9: 103,192,395 (GRCm39)	D295E	probably benign	Het
Unc79	C	T	12: 103,078,397 (GRCm39)	L1521F	probably damaging	Het
Usp10	T	C	8: 120,683,406 (GRCm39)	I759T	probably benign	Het
Vmn1r30	A	T	6: 58,412,759 (GRCm39)	C24*	probably null	Het
Vmn2r104	T	A	17: 20,250,343 (GRCm39)	I643F	probably damaging	Het
Wwc1	T	A	11: 35,758,199 (GRCm39)	T716S	probably damaging	Het
Zfp949	C	T	9: 88,451,537 (GRCm39)	T369M	probably benign	Het
Zhx3	A	G	2: 160,621,938 (GRCm39)	V743A	probably benign	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
R0829:Ccdc177	UTSW	12	80,806,253 (GRCm39)	missense	probably damaging	0.96
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
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'- AGCTGCTCGTAGTTCTCTTG -3'
(R):5'- TTCAGCCTCGGAGACCTGAG -3'

Sequencing Primer
(F):5'- CGTAGTTCTCTTGCGCGCG -3'
(R):5'- AAGAGCGCCTGTTGCTG -3'

Posted On

2017-07-11