Mutagenetix > Incidental Mutation

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

A330015D16Rik, 4930418J05Rik, 4930473A06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

83443782-83782907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83782486 bp (GRCm39)

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]

AlphaFold

E9Q1U1

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 (GRCm38)	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,694,776 (GRCm39)	D502G	possibly damaging	Het
Brwd3	A	G	X: 107,827,852 (GRCm39)		probably benign	Het
Chd7	T	C	4: 8,840,435 (GRCm39)	I1401T	probably damaging	Het
Csf1	T	C	3: 107,657,662 (GRCm39)	N76S	probably damaging	Het
Dld	A	G	12: 31,382,329 (GRCm39)		probably benign	Het
Eif5	T	A	12: 111,506,989 (GRCm39)	I141N	probably damaging	Het
Etl4	G	A	2: 20,771,289 (GRCm39)	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,432,500 (GRCm39)	R550W	probably damaging	Het
Hipk2	A	G	6: 38,795,208 (GRCm39)	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hsd17b2	A	T	8: 118,461,433 (GRCm39)	I157L	probably benign	Het
Ibtk	A	G	9: 85,572,384 (GRCm39)	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,334,764 (GRCm39)		probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Kir3dl1	G	A	X: 135,425,911 (GRCm39)	C95Y	probably damaging	Het
Lamc2	A	G	1: 153,020,397 (GRCm39)	V383A	probably benign	Het
Mael	A	G	1: 166,032,418 (GRCm39)	Y314H	probably damaging	Het
Npat	T	C	9: 53,474,590 (GRCm39)	V794A	possibly damaging	Het
Nr4a2	T	A	2: 56,999,229 (GRCm39)	I340F	probably damaging	Het
Or4c103	A	G	2: 88,513,638 (GRCm39)	V146A	probably benign	Het
Or5p56	A	T	7: 107,590,097 (GRCm39)	D175V	probably damaging	Het
Or7g21	T	A	9: 19,032,528 (GRCm39)	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,096,003 (GRCm39)	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667 (GRCm39)	T264I	probably benign	Het
Sars2	G	T	7: 28,452,848 (GRCm39)		probably benign	Het
Scn1a	A	C	2: 66,158,141 (GRCm39)	S411A	probably damaging	Het
Srsf5	T	C	12: 80,994,608 (GRCm39)	V112A	probably damaging	Het
Susd2	T	C	10: 75,476,765 (GRCm39)	N206S	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het

Other mutations in Ccdc171

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Ccdc171	APN	4	83,600,561 (GRCm39)	nonsense	probably null
IGL00707:Ccdc171	APN	4	83,599,392 (GRCm39)	missense	probably benign	0.11
IGL01113:Ccdc171	APN	4	83,580,047 (GRCm39)	missense	probably damaging	1.00
IGL01669:Ccdc171	APN	4	83,599,432 (GRCm39)	missense	probably damaging	1.00
IGL01696:Ccdc171	APN	4	83,573,815 (GRCm39)	missense	possibly damaging	0.66
IGL02006:Ccdc171	APN	4	83,713,479 (GRCm39)	missense	possibly damaging	0.93
IGL02582:Ccdc171	APN	4	83,661,255 (GRCm39)	missense	probably damaging	1.00
IGL03019:Ccdc171	APN	4	83,713,545 (GRCm39)	missense	probably damaging	1.00
IGL03144:Ccdc171	APN	4	83,736,327 (GRCm39)	missense	probably damaging	0.99
IGL03350:Ccdc171	APN	4	83,599,615 (GRCm39)	missense	possibly damaging	0.67
IGL03377:Ccdc171	APN	4	83,581,754 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Ccdc171	UTSW	4	83,579,946 (GRCm39)
PIT4445001:Ccdc171	UTSW	4	83,579,984 (GRCm39)	missense	probably damaging	1.00
R0219:Ccdc171	UTSW	4	83,614,678 (GRCm39)	splice site	probably benign
R0284:Ccdc171	UTSW	4	83,467,975 (GRCm39)	missense	possibly damaging	0.62
R0355:Ccdc171	UTSW	4	83,553,919 (GRCm39)	missense	probably damaging	1.00
R1248:Ccdc171	UTSW	4	83,599,481 (GRCm39)	missense	possibly damaging	0.46
R1278:Ccdc171	UTSW	4	83,580,095 (GRCm39)	missense	possibly damaging	0.90
R1495:Ccdc171	UTSW	4	83,599,332 (GRCm39)	nonsense	probably null
R1741:Ccdc171	UTSW	4	83,539,076 (GRCm39)	missense	probably damaging	0.97
R1742:Ccdc171	UTSW	4	83,599,521 (GRCm39)	missense	probably damaging	0.99
R1789:Ccdc171	UTSW	4	83,473,045 (GRCm39)	missense	probably damaging	0.99
R1801:Ccdc171	UTSW	4	83,465,132 (GRCm39)	missense	probably benign	0.41
R4204:Ccdc171	UTSW	4	83,599,392 (GRCm39)	missense	probably benign	0.11
R4245:Ccdc171	UTSW	4	83,473,045 (GRCm39)	missense	probably damaging	0.99
R4502:Ccdc171	UTSW	4	83,782,560 (GRCm39)	missense	probably damaging	1.00
R4503:Ccdc171	UTSW	4	83,782,560 (GRCm39)	missense	probably damaging	1.00
R4533:Ccdc171	UTSW	4	83,575,579 (GRCm39)	missense	possibly damaging	0.66
R4589:Ccdc171	UTSW	4	83,467,855 (GRCm39)	missense	probably benign	0.11
R4782:Ccdc171	UTSW	4	83,599,253 (GRCm39)	missense	probably damaging	0.99
R4815:Ccdc171	UTSW	4	83,713,458 (GRCm39)	missense	probably damaging	1.00
R4868:Ccdc171	UTSW	4	83,612,569 (GRCm39)	missense	probably damaging	1.00
R4926:Ccdc171	UTSW	4	83,476,829 (GRCm39)	intron	probably benign
R4937:Ccdc171	UTSW	4	83,467,876 (GRCm39)	missense	probably damaging	1.00
R5120:Ccdc171	UTSW	4	83,476,763 (GRCm39)	intron	probably benign
R5185:Ccdc171	UTSW	4	83,581,892 (GRCm39)	missense	possibly damaging	0.84
R5210:Ccdc171	UTSW	4	83,473,093 (GRCm39)	missense	probably damaging	1.00
R5243:Ccdc171	UTSW	4	83,522,344 (GRCm39)	missense	probably damaging	1.00
R5484:Ccdc171	UTSW	4	83,612,199 (GRCm39)	missense	probably benign	0.00
R5574:Ccdc171	UTSW	4	83,611,990 (GRCm39)	missense	probably damaging	1.00
R6053:Ccdc171	UTSW	4	83,713,456 (GRCm39)	missense	probably damaging	1.00
R6135:Ccdc171	UTSW	4	83,473,087 (GRCm39)	missense	probably benign	0.12
R6140:Ccdc171	UTSW	4	83,614,554 (GRCm39)	nonsense	probably null
R6339:Ccdc171	UTSW	4	83,661,234 (GRCm39)	missense	probably damaging	1.00
R6452:Ccdc171	UTSW	4	83,782,527 (GRCm39)	missense	probably damaging	1.00
R7111:Ccdc171	UTSW	4	83,611,998 (GRCm39)	missense	probably benign	0.00
R7352:Ccdc171	UTSW	4	83,736,260 (GRCm39)	missense	possibly damaging	0.82
R7390:Ccdc171	UTSW	4	83,736,304 (GRCm39)	missense	probably damaging	1.00
R7626:Ccdc171	UTSW	4	83,499,012 (GRCm39)	nonsense	probably null
R7686:Ccdc171	UTSW	4	83,575,556 (GRCm39)	missense	unknown
R7705:Ccdc171	UTSW	4	83,476,193 (GRCm39)	missense	possibly damaging	0.87
R7934:Ccdc171	UTSW	4	83,614,492 (GRCm39)	nonsense	probably null
R8058:Ccdc171	UTSW	4	83,499,003 (GRCm39)	missense	probably damaging	0.99
R8114:Ccdc171	UTSW	4	83,614,537 (GRCm39)	missense	probably damaging	1.00
R8253:Ccdc171	UTSW	4	83,661,207 (GRCm39)	missense	probably damaging	0.99
R8257:Ccdc171	UTSW	4	83,614,606 (GRCm39)	missense	probably damaging	1.00
R8378:Ccdc171	UTSW	4	83,782,490 (GRCm39)	missense	possibly damaging	0.67
R8501:Ccdc171	UTSW	4	83,581,895 (GRCm39)	nonsense	probably null
R8517:Ccdc171	UTSW	4	83,661,298 (GRCm39)	missense	probably damaging	1.00
R8697:Ccdc171	UTSW	4	83,600,577 (GRCm39)	missense	probably damaging	1.00
R9149:Ccdc171	UTSW	4	83,612,512 (GRCm39)	missense	probably damaging	1.00
R9430:Ccdc171	UTSW	4	83,522,362 (GRCm39)	missense	probably damaging	1.00
R9642:Ccdc171	UTSW	4	83,599,525 (GRCm39)	missense	probably benign	0.12
R9686:Ccdc171	UTSW	4	83,467,919 (GRCm39)	missense	probably damaging	1.00
U24488:Ccdc171	UTSW	4	83,579,954 (GRCm39)	missense	probably damaging	1.00
Z1176:Ccdc171	UTSW	4	83,713,467 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-04-17