Mutagenetix > Incidental Mutation

Incidental Mutation 'R4503:Ccdc171'

331891

Institutional Source

Beutler Lab

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 #

R4503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83443782-83782907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83782560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1284 (E1284G)

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: E1284G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: E1284G

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: E1292G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,607,672 (GRCm39)	L30P	probably benign	Het
Adamts20	T	C	15: 94,277,631 (GRCm39)	H277R	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp13a5	G	T	16: 29,112,346 (GRCm39)	N598K	probably benign	Het
Cdk5	G	A	5: 24,624,617 (GRCm39)	T258M	possibly damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Coro6	A	G	11: 77,360,272 (GRCm39)	E414G	probably benign	Het
Dst	T	C	1: 34,301,334 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
H2bc18	A	T	3: 96,177,240 (GRCm39)	K58M	possibly damaging	Het
Kank4	G	A	4: 98,665,335 (GRCm39)	S653L	possibly damaging	Het
Mapkbp1	T	C	2: 119,846,187 (GRCm39)	I451T	probably damaging	Het
Ncf2	A	G	1: 152,709,529 (GRCm39)	E342G	probably benign	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Or6aa1	T	A	7: 86,044,485 (GRCm39)	T74S	possibly damaging	Het
Pds5b	T	C	5: 150,652,399 (GRCm39)	L222P	probably damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Sacs	A	G	14: 61,445,052 (GRCm39)	N2366S	probably damaging	Het
Sall2	T	C	14: 52,550,916 (GRCm39)	M758V	probably benign	Het
Sh3tc2	A	G	18: 62,107,694 (GRCm39)	E235G	probably damaging	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Smad2	T	A	18: 76,435,663 (GRCm39)	S419T	probably benign	Het
Sprr3	T	C	3: 92,364,683 (GRCm39)	I54V	possibly damaging	Het
Tbck	A	G	3: 132,456,981 (GRCm39)	T632A	probably benign	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Tmem178	C	T	17: 81,293,693 (GRCm39)	T162I	probably benign	Het
Zfp619	A	G	7: 39,186,280 (GRCm39)	H770R	probably damaging	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	possibly 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
IGL00907:Ccdc171	APN	4	83,782,486 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CCAACCCACATCCATGTTTGTG -3'
(R):5'- GCACACATTGGGATATCACAC -3'

Sequencing Primer
(F):5'- ACCCACATCCATGTTTGTGTTTATAG -3'
(R):5'- GGGATATCACACCATTACCTTACTTG -3'

Posted On

2015-07-21