Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Ccdc61'

298046

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc61

Ensembl Gene

ENSMUSG00000074358

Gene Name

coiled-coil domain containing 61

Synonyms

C530028I08Rik, LOC232933

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

18890883-18910415 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18893302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 48 (S48T)

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 benign
Transcript: ENSMUST00000098780
AA Change: S296T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096377
Gene: ENSMUSG00000074358
AA Change: S296T

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

probably benign
Transcript: ENSMUST00000206499
AA Change: S48T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206595

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109I03Rik	T	G	15: 74,880,755	H24P	probably damaging	Het
Acadl	A	G	1: 66,845,166		probably null	Het
Acer3	G	A	7: 98,223,978	T171I	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Anxa2	A	G	9: 69,467,306	S22G	probably benign	Het
Arrb2	T	C	11: 70,436,870	I120T	probably damaging	Het
Atp11a	G	T	8: 12,816,997	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009	V762A	probably benign	Het
Cntn2	T	C	1: 132,529,063	M82V	probably null	Het
Cobll1	A	G	2: 65,107,863	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,884,135	D465E	probably benign	Het
Def6	A	T	17: 28,228,261	E622V	probably benign	Het
Dmgdh	T	C	13: 93,717,575	Y678H	probably damaging	Het
Dock9	A	T	14: 121,698,312	M1K	probably null	Het
Esyt1	T	C	10: 128,522,093	K216E	probably damaging	Het
Fhod3	A	G	18: 25,022,960	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,881,834	V549I	probably benign	Het
Gm1966	A	T	7: 106,601,639		noncoding transcript	Het
Gm7361	A	G	5: 26,261,122	I161V	possibly damaging	Het
Gsn	T	C	2: 35,282,607		probably benign	Het
Il16	T	A	7: 83,674,496	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055	D67G	probably benign	Het
Insrr	T	C	3: 87,804,498	L515P	probably damaging	Het
Jhy	A	G	9: 40,917,170	F480S	probably benign	Het
Klc4	C	A	17: 46,636,910		probably null	Het
Klhl12	G	T	1: 134,467,705	C135F	possibly damaging	Het
Mboat7	G	T	7: 3,683,906		probably null	Het
Myo1f	A	G	17: 33,580,150		probably benign	Het
Myo1f	G	A	17: 33,588,142	D522N	probably damaging	Het
Nbea	C	A	3: 56,019,414	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,177,447	D602G	probably benign	Het
Ncaph2	A	T	15: 89,369,861	K344*	probably null	Het
Nek2	A	G	1: 191,822,259	Y70C	probably damaging	Het
Olfr1277	T	A	2: 111,270,004	D121V	probably damaging	Het
Olfr1281	T	C	2: 111,328,500	L27P	probably damaging	Het
Olfr31	T	C	14: 14,328,423	L104P	possibly damaging	Het
Olfr857	C	A	9: 19,713,047	F73L	possibly damaging	Het
Olfr955	T	A	9: 39,470,546	Y60F	probably benign	Het
Olfr992	G	A	2: 85,399,822	A237V	probably damaging	Het
Plcb3	T	A	19: 6,960,176	K625*	probably null	Het
Plrg1	T	C	3: 83,061,123		probably null	Het
Ptpn12	A	G	5: 20,998,139	V547A	probably benign	Het
Ralgapb	A	G	2: 158,448,411	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,162,019	E41G	probably damaging	Het
Rela	G	T	19: 5,641,506	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,871,862	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,440,949	K1666*	probably null	Het
Slco1a1	C	T	6: 141,943,465	M40I	probably benign	Het
Smarca4	C	A	9: 21,686,122	P1391Q	probably benign	Het
Stra6	A	G	9: 58,150,083	N392S	possibly damaging	Het
Syt4	A	G	18: 31,444,193	I36T	probably damaging	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmem87a	T	A	2: 120,374,485		probably null	Het
Tmf1	T	C	6: 97,158,561	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,446,101	Y312C	probably damaging	Het
Usp47	C	T	7: 112,104,354	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,451,732	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,096	V953A	probably benign	Het
Wasl	A	G	6: 24,633,884	F127S	probably damaging	Het
Wdr1	C	T	5: 38,540,863	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,330,918	T214I	probably damaging	Het
Xpo5	A	G	17: 46,229,329	D693G	probably benign	Het
Zan	A	G	5: 137,387,039	L5044P	unknown	Het
Zhx3	T	C	2: 160,781,296	N317S	probably damaging	Het

Other mutations in Ccdc61

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Ccdc61	APN	7	18892558	missense	probably benign
IGL02029:Ccdc61	APN	7	18903498	missense	probably damaging	1.00
I0000:Ccdc61	UTSW	7	18903549	missense	probably damaging	1.00
R0055:Ccdc61	UTSW	7	18892536	missense	probably damaging	1.00
R0055:Ccdc61	UTSW	7	18892536	missense	probably damaging	1.00
R0392:Ccdc61	UTSW	7	18891102	missense	probably benign	0.27
R0578:Ccdc61	UTSW	7	18903475	missense	probably benign	0.02
R1740:Ccdc61	UTSW	7	18903937	splice site	probably benign
R2230:Ccdc61	UTSW	7	18891107	missense	probably damaging	0.98
R5964:Ccdc61	UTSW	7	18900940	missense	probably damaging	1.00
R6345:Ccdc61	UTSW	7	18909989	splice site	probably null
R6893:Ccdc61	UTSW	7	18892563	missense	possibly damaging	0.94
R7466:Ccdc61	UTSW	7	18891105	missense	probably damaging	0.99
R9224:Ccdc61	UTSW	7	18903821	missense	probably benign	0.03
R9588:Ccdc61	UTSW	7	18910341	critical splice donor site	probably benign

Posted On

2015-04-16