Mutagenetix > Incidental Mutation

Incidental Mutation 'R5574:Ccdc171'

437095

Institutional Source

Beutler Lab

Gene Symbol

Ccdc171

Ensembl Gene

ENSMUSG00000052407

Gene Name

coiled-coil domain containing 171

Synonyms

4930473A06Rik, 4930418J05Rik, A330015D16Rik

MMRRC Submission

043129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83525545-83864670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83693753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 895 (N895I)

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: N895I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: N895I

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

noncoding transcript
Transcript: ENSMUST00000183729

Predicted Effect

probably damaging
Transcript: ENSMUST00000231339
AA Change: N903I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.0961

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
3110002H16Rik	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,185,006		probably null	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Cdhr4	A	T	9: 107,993,328		probably benign	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Eya2	G	A	2: 165,763,816	R380H	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,570,357	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1100	A	G	2: 86,978,523	V91A	probably benign	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfp715	A	T	7: 43,311,039	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly 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
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
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'- GTGGTCAGACTGTAAGTTCATGAG -3'
(R):5'- GCCAGCGTGTTCACTTTGTG -3'

Sequencing Primer
(F):5'- GAGCACGGTTCCTCAGTGAGTC -3'
(R):5'- TCACTTTGTGAAGCCCCCGG -3'

Posted On

2016-10-26