Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Ccdc61'

239983

Institutional Source

Beutler Lab

Gene Symbol

Ccdc61

Ensembl Gene

ENSMUSG00000074358

Gene Name

coiled-coil domain containing 61

Synonyms

C530028I08Rik, LOC232933

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R2230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18624808-18644340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18625032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 502 (E502G)

Ref Sequence

ENSEMBL: ENSMUSP00000096377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032573] [ENSMUST00000098780] [ENSMUST00000133506] [ENSMUST00000135467]

AlphaFold

Q3UJV1

Predicted Effect

probably benign
Transcript: ENSMUST00000032573

SMART Domains

Protein: ENSMUSP00000032573
Gene: ENSMUSG00000030413

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
PGRP	18	161	8.93e-75	SMART
Ami_2	29	167	5.11e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098780
AA Change: E502G

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

SMART Domains

Protein: ENSMUSP00000096377
Gene: ENSMUSG00000074358
AA Change: E502G

Domain	Start	End	E-Value	Type
coiled coil region	173	206	N/A	INTRINSIC
low complexity region	217	242	N/A	INTRINSIC
coiled coil region	243	280	N/A	INTRINSIC
low complexity region	290	332	N/A	INTRINSIC
low complexity region	350	383	N/A	INTRINSIC
low complexity region	400	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133506

SMART Domains

Protein: ENSMUSP00000123152
Gene: ENSMUSG00000074358

Domain	Start	End	E-Value	Type
low complexity region	28	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206206

Predicted Effect

unknown
Transcript: ENSMUST00000206499
AA Change: E254G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206595

Meta Mutation Damage Score

0.3446

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,521,347 (GRCm39)	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Apoa2	A	G	1: 171,053,340 (GRCm39)	K53R	probably benign	Het
Atr	A	G	9: 95,802,818 (GRCm39)	R1827G	probably damaging	Het
Ccn2	T	A	10: 24,472,371 (GRCm39)	M138K	possibly damaging	Het
Cdon	T	C	9: 35,403,222 (GRCm39)		probably null	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dock2	T	A	11: 34,244,323 (GRCm39)	I1036F	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Entrep2	G	A	7: 64,408,970 (GRCm39)	H475Y	probably damaging	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
F2	T	C	2: 91,456,102 (GRCm39)	D553G	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Gm10650	A	G	3: 127,833,412 (GRCm39)		noncoding transcript	Het
Gm21850	G	T	2: 153,900,248 (GRCm39)	V202L	probably benign	Het
Hdc	T	A	2: 126,435,938 (GRCm39)	E644D	possibly damaging	Het
Hypk	G	A	2: 121,287,773 (GRCm39)		probably null	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
Mgll	G	A	6: 88,802,714 (GRCm39)	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Musk	A	T	4: 58,333,672 (GRCm39)	I256F	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Myo5c	A	G	9: 75,180,888 (GRCm39)	D759G	probably benign	Het
Nkx2-1	G	A	12: 56,580,071 (GRCm39)	Q290*	probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or7g16	A	G	9: 18,727,021 (GRCm39)	S190P	probably damaging	Het
Or8c13	T	C	9: 38,091,442 (GRCm39)	T226A	probably benign	Het
Pabpc2	G	A	18: 39,908,123 (GRCm39)	V463I	probably benign	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,941,105 (GRCm39)	R1302L	probably damaging	Het
Pnpla7	T	C	2: 24,941,610 (GRCm39)		probably benign	Het
Ppl	G	A	16: 4,906,845 (GRCm39)	T1150I	possibly damaging	Het
Prkag2	G	T	5: 25,113,362 (GRCm39)	A113E	probably benign	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sec14l5	A	G	16: 4,994,345 (GRCm39)	T380A	probably damaging	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sspo	C	A	6: 48,477,437 (GRCm39)	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,270,363 (GRCm39)	N137K	probably damaging	Het
Tek	G	A	4: 94,699,573 (GRCm39)	C317Y	probably damaging	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,223,047 (GRCm39)	I1377N	probably damaging	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttf2	A	G	3: 100,865,260 (GRCm39)	V544A	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,569,527 (GRCm39)	F267L	probably benign	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het
Vwa8	T	C	14: 79,329,843 (GRCm39)		probably null	Het
Zfp708	A	T	13: 67,219,036 (GRCm39)	Y229*	probably null	Het
Zzef1	T	A	11: 72,775,242 (GRCm39)	M1745K	probably damaging	Het

Other mutations in Ccdc61

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Ccdc61	APN	7	18,626,483 (GRCm39)	missense	probably benign
IGL02029:Ccdc61	APN	7	18,637,423 (GRCm39)	missense	probably damaging	1.00
IGL02550:Ccdc61	APN	7	18,627,227 (GRCm39)	missense	probably benign	0.03
I0000:Ccdc61	UTSW	7	18,637,474 (GRCm39)	missense	probably damaging	1.00
R0055:Ccdc61	UTSW	7	18,626,461 (GRCm39)	missense	probably damaging	1.00
R0055:Ccdc61	UTSW	7	18,626,461 (GRCm39)	missense	probably damaging	1.00
R0392:Ccdc61	UTSW	7	18,625,027 (GRCm39)	missense	probably benign	0.27
R0578:Ccdc61	UTSW	7	18,637,400 (GRCm39)	missense	probably benign	0.02
R1740:Ccdc61	UTSW	7	18,637,862 (GRCm39)	splice site	probably benign
R5964:Ccdc61	UTSW	7	18,634,865 (GRCm39)	missense	probably damaging	1.00
R6345:Ccdc61	UTSW	7	18,643,914 (GRCm39)	splice site	probably null
R6893:Ccdc61	UTSW	7	18,626,488 (GRCm39)	missense	possibly damaging	0.94
R7466:Ccdc61	UTSW	7	18,625,030 (GRCm39)	missense	probably damaging	0.99
R9224:Ccdc61	UTSW	7	18,637,746 (GRCm39)	missense	probably benign	0.03
R9588:Ccdc61	UTSW	7	18,644,266 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTGAATCACACACTAGGGG -3'
(R):5'- TTAAAGGTGAGCCCAGGGTG -3'

Sequencing Primer
(F):5'- TCTCCTAGAATGAATTACTGGGAGAG -3'
(R):5'- GGGTGTCCCATATTTGTCCC -3'

Posted On

2014-10-15