Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Ccdc171'

168768

Institutional Source

Beutler Lab

Gene Symbol

Ccdc171

Ensembl Gene

ENSMUSG00000052407

Gene Name

coiled-coil domain containing 171

Synonyms

4930473A06Rik, 4930418J05Rik, A330015D16Rik

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83525545-83864670 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 83681095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 724 (K724*)

Ref Sequence

ENSEMBL: ENSMUSP00000155912 (fasta)

Gene Model

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

AlphaFold

E9Q1U1

Predicted Effect

probably null
Transcript: ENSMUST00000053414
AA Change: K716*

SMART Domains

Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: K716*

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

probably null
Transcript: ENSMUST00000231339
AA Change: K724*

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,477,820	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Agt	A	G	8: 124,559,455	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Arvcf	T	A	16: 18,389,386	L70Q	probably damaging	Het
Ccdc91	A	G	6: 147,534,172	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Extl3	A	T	14: 65,075,867	V622E	probably benign	Het
Fam227a	C	T	15: 79,626,245	V403I	probably benign	Het
Fat2	T	A	11: 55,262,673	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850		probably null	Het
Fras1	A	G	5: 96,528,586	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944	N113S	probably damaging	Het
Glg1	T	C	8: 111,197,675	Y227C	probably damaging	Het
Gm14851	T	A	8: 21,095,201	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873		probably benign	Het
Lyzl1	G	T	18: 4,181,192	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839	M350L	probably benign	Het
Pecam1	T	C	11: 106,688,856	D460G	probably damaging	Het
Pik3c2a	T	A	7: 116,388,065	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193	I32N	probably damaging	Het
Prkd1	T	C	12: 50,366,352	S679G	probably damaging	Het
Psen2	C	T	1: 180,228,854	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335	C4F	unknown	Het
Snx1	T	A	9: 66,096,597	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027	F595S	probably damaging	Het
Tec	A	T	5: 72,786,755	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,290,791	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,799,937	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213	P186S	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
IGL00907:Ccdc171	APN	4	83864249	missense	probably damaging	0.98
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
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
R8697:Ccdc171	UTSW	4	83682340	missense	probably damaging	1.00
R9149:Ccdc171	UTSW	4	83694275	missense	probably damaging	1.00
R9430:Ccdc171	UTSW	4	83604125	missense	probably damaging	1.00
R9642:Ccdc171	UTSW	4	83681288	missense	probably benign	0.12
R9686:Ccdc171	UTSW	4	83549682	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

Predicted Primers

PCR Primer
(F):5'- TTCAAACCTGTCAGGCCCACTG -3'
(R):5'- GAGTCTGTTTGCTGCCAAGATTGC -3'

Sequencing Primer
(F):5'- GCCCACTGTGTGCACTTAGATA -3'
(R):5'- GACACGGACCAATCCTTTGAATG -3'

Posted On

2014-04-13