Mutagenetix > Incidental Mutation

Incidental Mutation 'R8517:Ccdc171'

656194

Institutional Source

Beutler Lab

Gene Symbol

Ccdc171

Ensembl Gene

ENSMUSG00000052407

Gene Name

coiled-coil domain containing 171

Synonyms

4930473A06Rik, 4930418J05Rik, A330015D16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83525545-83864670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83743061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1136 (R1136H)

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: R1136H

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

SMART Domains

Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: R1136H

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: R1144H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,942,969	D131E	probably damaging	Het
Abca17	C	A	17: 24,317,233	V487F	probably benign	Het
Anapc5	T	C	5: 122,821,030	S41G	probably benign	Het
Aoc1	C	T	6: 48,906,710	Q507*	probably null	Het
Clspn	A	G	4: 126,566,219	D413G	probably benign	Het
Copz2	A	G	11: 96,853,483	K74E	possibly damaging	Het
Cpsf4l	C	A	11: 113,708,825	A45S	probably benign	Het
Cr2	T	C	1: 195,155,899	I710V	probably benign	Het
Csmd2	G	A	4: 128,552,686	R3348Q		Het
Dchs2	A	G	3: 83,271,112	I1157M	probably damaging	Het
Dcst1	A	G	3: 89,365,148	F3L	probably benign	Het
Dennd5b	A	C	6: 149,029,121	C743G	probably damaging	Het
Dnah6	T	C	6: 73,178,457	E725G	probably benign	Het
Dnajc3	G	T	14: 118,953,177	G51*	probably null	Het
Dyrk2	T	C	10: 118,861,021	T111A	probably benign	Het
F5	T	A	1: 164,176,253	F206I	probably damaging	Het
Fam217b	T	A	2: 178,420,772	S176R	probably benign	Het
Farsb	A	T	1: 78,463,296	L313*	probably null	Het
Fbxo18	A	G	2: 11,777,430		probably null	Het
Fgd4	G	A	16: 16,422,645	T740I	probably benign	Het
Gm14124	A	T	2: 150,268,123	E244D	probably benign	Het
Gprc6a	G	T	10: 51,631,241	A64D	probably benign	Het
Gtf3c1	A	T	7: 125,654,551	V1365E	probably damaging	Het
Hdc	C	G	2: 126,597,970		probably null	Het
Igkv5-39	T	G	6: 69,900,569	I68L	possibly damaging	Het
Kcnh2	A	T	5: 24,326,638	V425D	probably damaging	Het
Kcnj12	T	C	11: 61,069,373	S166P	probably benign	Het
Krtap16-1	A	T	11: 99,985,698	C293*	probably null	Het
Map7	T	C	10: 20,261,835	V251A	probably damaging	Het
Myo7b	G	T	18: 31,967,191	L1597M	possibly damaging	Het
Nmu	T	C	5: 76,345,479	E82G	possibly damaging	Het
Nup85	T	C	11: 115,564,564		probably null	Het
Nwd2	A	G	5: 63,791,582	N166D	probably damaging	Het
Olfr667	T	A	7: 104,916,474	H274L	possibly damaging	Het
Pbrm1	C	A	14: 31,067,782	D784E	probably benign	Het
Pcdhgb1	T	A	18: 37,682,064	M536K	possibly damaging	Het
Pml	T	A	9: 58,220,368	Q698L	possibly damaging	Het
Pon1	T	C	6: 5,171,769	Y294C	probably benign	Het
Rasal2	T	C	1: 157,146,279		probably null	Het
Rims1	T	A	1: 22,483,165	H484L	probably damaging	Het
Rpia	C	A	6: 70,766,646	V274L	possibly damaging	Het
Sart1	A	G	19: 5,383,197	L424P	probably damaging	Het
Scnm1	A	C	3: 95,132,823		probably null	Het
Slfn8	T	A	11: 83,004,142	M613L	possibly damaging	Het
Snph	A	G	2: 151,593,721	V429A	probably damaging	Het
Tarbp1	T	A	8: 126,444,195	D1022V	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Ttc8	A	G	12: 98,943,335	N100D	probably benign	Het
Zbtb49	T	A	5: 38,200,653	H752L	probably benign	Het
Zfp263	T	C	16: 3,746,896		probably null	Het
Zfp46	A	G	4: 136,291,147	T431A	probably benign	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
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
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'- AGGGCTGACAAGTAGCTCTG -3'
(R):5'- GCATAATTTGAGGCTACACAGAAG -3'

Sequencing Primer
(F):5'- GCTGACAAGTAGCTCTGTTTTC -3'
(R):5'- CACTTAGAGTGTGGAGTTAAGAGTC -3'

Posted On

2020-10-20