Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Ccdc171'

570627

Institutional Source

Beutler Lab

Gene Symbol

Ccdc171

Ensembl Gene

ENSMUSG00000052407

Gene Name

coiled-coil domain containing 171

Synonyms

4930473A06Rik, 4930418J05Rik, A330015D16Rik

MMRRC Submission

045438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83525545-83864670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83818023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1210 (D1210E)

Ref Sequence

ENSEMBL: ENSMUSP00000056520 (fasta)

Gene Model

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

AlphaFold

E9Q1U1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053414
AA Change: D1210E

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

SMART Domains

Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: D1210E

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: D1218E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA792892	A	T	5: 94,383,884	N209I	probably damaging	Het
Abca17	C	T	17: 24,289,054	W1124*	probably null	Het
Acap3	G	A	4: 155,905,711	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,708,041	L860P	probably damaging	Het
Arap3	G	A	18: 37,973,278	T1504I	probably benign	Het
Atad5	T	C	11: 80,103,343		probably null	Het
Atp8a2	A	G	14: 59,791,204	V938A	probably benign	Het
AW551984	T	C	9: 39,592,925	M582V	probably benign	Het
Axdnd1	C	T	1: 156,382,477	V408I	possibly damaging	Het
Babam2	T	A	5: 32,007,250	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,324,626	M20V	probably benign	Het
Bex6	A	G	16: 32,186,216		probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Cad	T	A	5: 31,058,078	S78T	probably damaging	Het
Ccnd1	T	C	7: 144,937,387	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,299,311	F1396I	probably damaging	Het
Cep170	A	T	1: 176,769,857	D373E	probably benign	Het
Chrna4	A	T	2: 181,037,474	I60N	probably damaging	Het
Cntn2	T	C	1: 132,522,399	T586A	probably benign	Het
Csmd2	G	T	4: 128,557,636	V3396F		Het
Cyp3a44	T	A	5: 145,803,688	L47F	probably benign	Het
D7Ertd443e	A	T	7: 134,349,394	H183Q	probably benign	Het
Ddx27	T	C	2: 167,029,513	V510A	probably benign	Het
Ddx58	T	A	4: 40,239,668	Q10L	probably benign	Het
Dgat1	G	T	15: 76,502,824	C396*	probably null	Het
Dmpk	A	G	7: 19,086,072	S83G	probably damaging	Het
Dsc2	T	G	18: 20,035,335	D689A	probably benign	Het
Eppk1	A	T	15: 76,106,418	W2088R	probably benign	Het
Exph5	A	C	9: 53,375,722	I1368L	probably benign	Het
Fadd	T	C	7: 144,580,659	K163R	probably benign	Het
Fam149a	T	A	8: 45,340,997	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,268,251	M449K	probably benign	Het
Gad1	T	C	2: 70,594,750	F463L	probably benign	Het
Gad2	T	A	2: 22,623,823	F91I	probably benign	Het
Gcc2	T	C	10: 58,280,698		probably null	Het
Gjc1	A	C	11: 102,800,452	C242G	probably damaging	Het
Gkn1	T	C	6: 87,348,118	E103G	possibly damaging	Het
Gm867	T	C	10: 75,939,836	T39A	probably benign	Het
Gpr108	A	G	17: 57,236,944	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,307,993	V508G	probably damaging	Het
Grm1	A	T	10: 10,719,493	I797N	probably damaging	Het
Ice1	G	A	13: 70,606,102	Q622*	probably null	Het
Kcnb2	T	A	1: 15,710,611	V569E	probably benign	Het
Ksr2	T	G	5: 117,689,641	I495S	probably benign	Het
Litaf	A	T	16: 10,963,353	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,111	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,472,397	S2996Y	probably benign	Het
Ltf	T	C	9: 111,028,450	S436P	probably benign	Het
Map4k4	T	A	1: 39,962,227	V58D	unknown	Het
Mapkapk3	C	A	9: 107,257,070	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,451,474	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,333,911	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,850,293	M248V	probably benign	Het
Olfr1000	T	C	2: 85,608,784	N42S	probably damaging	Het
Olfr1208	T	A	2: 88,896,718	N293I	probably damaging	Het
Olfr1238	T	C	2: 89,406,462	M206V	probably benign	Het
Olfr1239	C	A	2: 89,417,967	G149W	probably damaging	Het
Olfr1443	A	G	19: 12,680,751	I214M	possibly damaging	Het
Olfr523	A	T	7: 140,176,525	Y135F	probably damaging	Het
Olig2	A	G	16: 91,226,689	D97G	probably benign	Het
Pcdha11	T	A	18: 37,006,845	V509E	probably damaging	Het
Pglyrp3	G	A	3: 92,014,640	W5*	probably null	Het
Phf14	A	T	6: 11,961,638	N425Y	probably damaging	Het
Phf3	G	T	1: 30,804,326	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,328,812	T39A	probably damaging	Het
Plin4	A	G	17: 56,104,427	M868T	probably benign	Het
Pnma2	A	G	14: 66,916,421	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,041,832	T782I	probably damaging	Het
Prickle2	T	G	6: 92,410,890	E566D	probably benign	Het
Pvr	A	G	7: 19,910,616	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,968,358		probably benign	Het
Rapgef4	T	A	2: 72,180,091	I331N	probably damaging	Het
Reg3g	C	T	6: 78,466,859	W122*	probably null	Het
Rlbp1	A	T	7: 79,381,680	I100N	probably damaging	Het
Rnf213	T	A	11: 119,443,579	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Rtl6	G	T	15: 84,556,980	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,637,194	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,525,701	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,948,279	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,790,984	T392A	probably damaging	Het
Spaca7	T	A	8: 12,585,742	I86K	probably benign	Het
Syt10	G	T	15: 89,814,456	D228E	probably benign	Het
Tbx3	T	A	5: 119,677,560	N308K	probably benign	Het
Telo2	A	G	17: 25,102,069	V724A	probably damaging	Het
Tfip11	T	C	5: 112,333,268	V370A	probably benign	Het
Thbs3	A	G	3: 89,225,280	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,496,542	I148V	not run	Het
Trbv14	T	A	6: 41,135,495	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,876	V2973A	probably damaging	Het
Ttn	T	C	2: 76,794,484	D15250G	probably damaging	Het
Ubr2	G	A	17: 46,930,426	T1734I	probably benign	Het
Ush2a	G	T	1: 188,466,124	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,388,881	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,840,446	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,264,418	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,947,177	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,360,081	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,298,981	M87T	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
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'- TGGCCAATCTTGTCCCTCAG -3'
(R):5'- TATAAATGAGGCCCAAGACCCAGAG -3'

Sequencing Primer
(F):5'- GGGTACTCACCTACTTTTTGAGACAG -3'
(R):5'- GGCCCAAGACCCAGAGAAGAC -3'

Posted On

2019-09-13