Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00907:Ccdc171'

27219

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc171

Ensembl Gene

ENSMUSG00000052407

Gene Name

coiled-coil domain containing 171

Synonyms

4930473A06Rik, 4930418J05Rik, A330015D16Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

83525545-83864670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83864249 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1259 (H1259Q)

Ref Sequence

ENSEMBL: ENSMUSP00000056520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053414] [ENSMUST00000125077] [ENSMUST00000231339]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053414
AA Change: H1259Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: H1259Q

Domain	Start	End	E-Value	Type
coiled coil region	48	298	N/A	INTRINSIC
coiled coil region	325	393	N/A	INTRINSIC
coiled coil region	453	527	N/A	INTRINSIC
coiled coil region	599	628	N/A	INTRINSIC
coiled coil region	653	712	N/A	INTRINSIC
low complexity region	728	743	N/A	INTRINSIC
low complexity region	783	797	N/A	INTRINSIC
coiled coil region	981	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125077

SMART Domains

Protein: ENSMUSP00000116486
Gene: ENSMUSG00000052407

Domain	Start	End	E-Value	Type
coiled coil region	48	298	N/A	INTRINSIC
coiled coil region	325	393	N/A	INTRINSIC
coiled coil region	453	535	N/A	INTRINSIC
coiled coil region	607	636	N/A	INTRINSIC
coiled coil region	661	720	N/A	INTRINSIC
low complexity region	736	751	N/A	INTRINSIC
low complexity region	791	805	N/A	INTRINSIC
coiled coil region	989	1153	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231339
AA Change: H1267Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice that either homozygous or heterozygous for an ENU-induced single point mutation exhibit decreased mature B cell number, decreased IgD level, and increased IgM level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,561,705	D502G	possibly damaging	Het
Brwd3	A	G	X: 108,784,246		probably benign	Het
Chd7	T	C	4: 8,840,435	I1401T	probably damaging	Het
Csf1	T	C	3: 107,750,346	N76S	probably damaging	Het
Dld	A	G	12: 31,332,330		probably benign	Het
Eif5	T	A	12: 111,540,555	I141N	probably damaging	Het
Etl4	G	A	2: 20,766,478	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,213,526	R550W	probably damaging	Het
Hipk2	A	G	6: 38,818,273	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hsd17b2	A	T	8: 117,734,694	I157L	probably benign	Het
Ibtk	A	G	9: 85,690,331	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,427,448		probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Kir3dl1	G	A	X: 136,525,162	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,144,651	V383A	probably benign	Het
Mael	A	G	1: 166,204,849	Y314H	probably damaging	Het
Npat	T	C	9: 53,563,290	V794A	possibly damaging	Het
Nr4a2	T	A	2: 57,109,217	I340F	probably damaging	Het
Olfr1195	A	G	2: 88,683,294	V146A	probably benign	Het
Olfr477	A	T	7: 107,990,890	D175V	probably damaging	Het
Olfr836	T	A	9: 19,121,232	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,107,564	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667	T264I	probably benign	Het
Sars2	G	T	7: 28,753,423		probably benign	Het
Scn1a	A	C	2: 66,327,797	S411A	probably damaging	Het
Srsf5	T	C	12: 80,947,834	V112A	probably damaging	Het
Susd2	T	C	10: 75,640,931	N206S	probably benign	Het
Thrap3	C	T	4: 126,165,578	G892S	probably benign	Het
Ttc32	T	A	12: 9,034,953	Y58N	probably damaging	Het

Other mutations in Ccdc171

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Ccdc171	APN	4	83682324	nonsense	probably null
IGL00707:Ccdc171	APN	4	83681155	missense	probably benign	0.11
IGL01113:Ccdc171	APN	4	83661810	missense	probably damaging	1.00
IGL01669:Ccdc171	APN	4	83681195	missense	probably damaging	1.00
IGL01696:Ccdc171	APN	4	83655578	missense	possibly damaging	0.66
IGL02006:Ccdc171	APN	4	83795242	missense	possibly damaging	0.93
IGL02582:Ccdc171	APN	4	83743018	missense	probably damaging	1.00
IGL03019:Ccdc171	APN	4	83795308	missense	probably damaging	1.00
IGL03144:Ccdc171	APN	4	83818090	missense	probably damaging	0.99
IGL03350:Ccdc171	APN	4	83681378	missense	possibly damaging	0.67
IGL03377:Ccdc171	APN	4	83663517	missense	probably damaging	1.00
PIT4131001:Ccdc171	UTSW	4	83661709
PIT4445001:Ccdc171	UTSW	4	83661747	missense	probably damaging	1.00
R0219:Ccdc171	UTSW	4	83696441	splice site	probably benign
R0284:Ccdc171	UTSW	4	83549738	missense	possibly damaging	0.62
R0355:Ccdc171	UTSW	4	83635682	missense	probably damaging	1.00
R1248:Ccdc171	UTSW	4	83681244	missense	possibly damaging	0.46
R1278:Ccdc171	UTSW	4	83661858	missense	possibly damaging	0.90
R1495:Ccdc171	UTSW	4	83681095	nonsense	probably null
R1741:Ccdc171	UTSW	4	83620839	missense	probably damaging	0.97
R1742:Ccdc171	UTSW	4	83681284	missense	probably damaging	0.99
R1789:Ccdc171	UTSW	4	83554808	missense	probably damaging	0.99
R1801:Ccdc171	UTSW	4	83546895	missense	probably benign	0.41
R4204:Ccdc171	UTSW	4	83681155	missense	probably benign	0.11
R4245:Ccdc171	UTSW	4	83554808	missense	probably damaging	0.99
R4502:Ccdc171	UTSW	4	83864323	missense	probably damaging	1.00
R4503:Ccdc171	UTSW	4	83864323	missense	probably damaging	1.00
R4533:Ccdc171	UTSW	4	83657342	missense	possibly damaging	0.66
R4589:Ccdc171	UTSW	4	83549618	missense	probably benign	0.11
R4782:Ccdc171	UTSW	4	83681016	missense	probably damaging	0.99
R4815:Ccdc171	UTSW	4	83795221	missense	probably damaging	1.00
R4868:Ccdc171	UTSW	4	83694332	missense	probably damaging	1.00
R4926:Ccdc171	UTSW	4	83558592	intron	probably benign
R4937:Ccdc171	UTSW	4	83549639	missense	probably damaging	1.00
R5120:Ccdc171	UTSW	4	83558526	intron	probably benign
R5185:Ccdc171	UTSW	4	83663655	missense	possibly damaging	0.84
R5210:Ccdc171	UTSW	4	83554856	missense	probably damaging	1.00
R5243:Ccdc171	UTSW	4	83604107	missense	probably damaging	1.00
R5484:Ccdc171	UTSW	4	83693962	missense	probably benign	0.00
R5574:Ccdc171	UTSW	4	83693753	missense	probably damaging	1.00
R6053:Ccdc171	UTSW	4	83795219	missense	probably damaging	1.00
R6135:Ccdc171	UTSW	4	83554850	missense	probably benign	0.12
R6140:Ccdc171	UTSW	4	83696317	nonsense	probably null
R6339:Ccdc171	UTSW	4	83742997	missense	probably damaging	1.00
R6452:Ccdc171	UTSW	4	83864290	missense	probably damaging	1.00
R7111:Ccdc171	UTSW	4	83693761	missense	probably benign	0.00
R7352:Ccdc171	UTSW	4	83818023	missense	possibly damaging	0.82
R7390:Ccdc171	UTSW	4	83818067	missense	probably damaging	1.00
R7626:Ccdc171	UTSW	4	83580775	nonsense	probably null
R7686:Ccdc171	UTSW	4	83657319	missense	unknown
R7705:Ccdc171	UTSW	4	83557956	missense	possibly damaging	0.87
R7934:Ccdc171	UTSW	4	83696255	nonsense	probably null
R8058:Ccdc171	UTSW	4	83580766	missense	probably damaging	0.99
R8114:Ccdc171	UTSW	4	83696300	missense	probably damaging	1.00
R8253:Ccdc171	UTSW	4	83742970	missense	probably damaging	0.99
R8257:Ccdc171	UTSW	4	83696369	missense	probably damaging	1.00
R8378:Ccdc171	UTSW	4	83864253	missense	possibly damaging	0.67
R8501:Ccdc171	UTSW	4	83663658	nonsense	probably null
R8517:Ccdc171	UTSW	4	83743061	missense	probably damaging	1.00
U24488:Ccdc171	UTSW	4	83661717	missense	probably damaging	1.00
Z1176:Ccdc171	UTSW	4	83795230	missense	probably damaging	0.99

Posted On

2013-04-17