Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Ccdc171'

201597

Institutional Source

Beutler Lab

Gene Symbol

Ccdc171

Ensembl Gene

ENSMUSG00000052407

Gene Name

coiled-coil domain containing 171

Synonyms

4930473A06Rik, 4930418J05Rik, A330015D16Rik

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

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

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83525545-83864670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83554808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

Ref Sequence

ENSEMBL: ENSMUSP00000116486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053414] [ENSMUST00000125077] [ENSMUST00000126429] [ENSMUST00000231339]

AlphaFold

E9Q1U1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053414
AA Change: D158G

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: D158G

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

noncoding transcript
Transcript: ENSMUST00000107202

SMART Domains

Protein: ENSMUSP00000102820
Gene: ENSMUSG00000052407

Domain	Start	End	E-Value	Type
coiled coil region	21	125	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125077
AA Change: D158G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116486
Gene: ENSMUSG00000052407
AA Change: D158G

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 benign
Transcript: ENSMUST00000126429

SMART Domains

Protein: ENSMUSP00000138195
Gene: ENSMUSG00000052407

Domain	Start	End	E-Value	Type
coiled coil region	48	91	N/A	INTRINSIC
low complexity region	93	117	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231339
AA Change: D158G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.0799

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

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
Abcc5	G	A	16: 20,365,951 (GRCm38)	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393 (GRCm38)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115 (GRCm38)	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126 (GRCm38)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165 (GRCm38)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005 (GRCm38)	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870 (GRCm38)	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067 (GRCm38)	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560 (GRCm38)	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450 (GRCm38)	T42S	probably damaging	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993 (GRCm38)		probably null	Het
Chrna5	T	C	9: 55,004,651 (GRCm38)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921 (GRCm38)	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305 (GRCm38)		probably null	Het
Col5a2	T	C	1: 45,394,776 (GRCm38)	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146 (GRCm38)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395 (GRCm38)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780 (GRCm38)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426 (GRCm38)	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919 (GRCm38)	Y478H	probably damaging	Het
Fam237b	A	T	5: 5,575,652 (GRCm38)	Q116L	possibly damaging	Het
Fat3	T	C	9: 16,376,985 (GRCm38)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm38)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562 (GRCm38)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735 (GRCm38)	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584 (GRCm38)	R404S	probably benign	Het
Gpd1	T	G	15: 99,723,202 (GRCm38)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057 (GRCm38)		probably benign	Het
Grin3b	T	C	10: 79,973,408 (GRCm38)	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718 (GRCm38)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781 (GRCm38)	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933 (GRCm38)	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512 (GRCm38)		probably null	Het
Itgb8	T	C	12: 119,202,455 (GRCm38)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384 (GRCm38)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008 (GRCm38)	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361 (GRCm38)	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074 (GRCm38)		probably benign	Het
L3mbtl1	A	G	2: 162,974,502 (GRCm38)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578 (GRCm38)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622 (GRCm38)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345 (GRCm38)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670 (GRCm38)		probably null	Het
Myo10	T	G	15: 25,726,525 (GRCm38)		probably null	Het
Myo1e	T	A	9: 70,338,784 (GRCm38)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572 (GRCm38)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095 (GRCm38)	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127 (GRCm38)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003 (GRCm38)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556 (GRCm38)	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890 (GRCm38)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431 (GRCm38)	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490 (GRCm38)	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725 (GRCm38)	S126C	probably damaging	Het
Or2g7	T	C	17: 38,067,948 (GRCm38)	I259T	probably damaging	Het
Or5p60	A	G	7: 108,124,915 (GRCm38)	F116S	probably benign	Het
Or5w10	A	T	2: 87,544,983 (GRCm38)	L187H	probably damaging	Het
Or6c219	A	T	10: 129,945,582 (GRCm38)	L160*	probably null	Het
Or6c6c	T	C	10: 129,705,607 (GRCm38)	M243T	possibly damaging	Het
Or6d15	A	C	6: 116,582,697 (GRCm38)	F83C	probably damaging	Het
Pdzd7	A	G	19: 45,039,228 (GRCm38)	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206 (GRCm38)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754 (GRCm38)	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632 (GRCm38)	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524 (GRCm38)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536 (GRCm38)	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730 (GRCm38)	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565 (GRCm38)	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799 (GRCm38)	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073 (GRCm38)	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221 (GRCm38)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273 (GRCm38)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242 (GRCm38)	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798 (GRCm38)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360 (GRCm38)	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219 (GRCm38)	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459 (GRCm38)		probably benign	Het
Spag17	T	A	3: 99,939,356 (GRCm38)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488 (GRCm38)		probably benign	Het
Stil	T	A	4: 115,041,782 (GRCm38)	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838 (GRCm38)	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246 (GRCm38)	Q478*	probably null	Het
Tg	A	T	15: 66,737,548 (GRCm38)	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033 (GRCm38)	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034 (GRCm38)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364 (GRCm38)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635 (GRCm38)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947 (GRCm38)	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780 (GRCm38)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993 (GRCm38)	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367 (GRCm38)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053 (GRCm38)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339 (GRCm38)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123 (GRCm38)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600 (GRCm38)	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525 (GRCm38)	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435 (GRCm38)		probably null	Het
Zfp277	A	G	12: 40,364,085 (GRCm38)	F254L	probably benign	Het

Other mutations in Ccdc171

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Ccdc171	APN	4	83,682,324 (GRCm38)	nonsense	probably null
IGL00707:Ccdc171	APN	4	83,681,155 (GRCm38)	missense	probably benign	0.11
IGL00907:Ccdc171	APN	4	83,864,249 (GRCm38)	missense	probably damaging	0.98
IGL01113:Ccdc171	APN	4	83,661,810 (GRCm38)	missense	probably damaging	1.00
IGL01669:Ccdc171	APN	4	83,681,195 (GRCm38)	missense	probably damaging	1.00
IGL01696:Ccdc171	APN	4	83,655,578 (GRCm38)	missense	possibly damaging	0.66
IGL02006:Ccdc171	APN	4	83,795,242 (GRCm38)	missense	possibly damaging	0.93
IGL02582:Ccdc171	APN	4	83,743,018 (GRCm38)	missense	probably damaging	1.00
IGL03019:Ccdc171	APN	4	83,795,308 (GRCm38)	missense	probably damaging	1.00
IGL03144:Ccdc171	APN	4	83,818,090 (GRCm38)	missense	probably damaging	0.99
IGL03350:Ccdc171	APN	4	83,681,378 (GRCm38)	missense	possibly damaging	0.67
IGL03377:Ccdc171	APN	4	83,663,517 (GRCm38)	missense	probably damaging	1.00
PIT4131001:Ccdc171	UTSW	4	83,661,709 (GRCm38)
PIT4445001:Ccdc171	UTSW	4	83,661,747 (GRCm38)	missense	probably damaging	1.00
R0219:Ccdc171	UTSW	4	83,696,441 (GRCm38)	splice site	probably benign
R0284:Ccdc171	UTSW	4	83,549,738 (GRCm38)	missense	possibly damaging	0.62
R0355:Ccdc171	UTSW	4	83,635,682 (GRCm38)	missense	probably damaging	1.00
R1248:Ccdc171	UTSW	4	83,681,244 (GRCm38)	missense	possibly damaging	0.46
R1278:Ccdc171	UTSW	4	83,661,858 (GRCm38)	missense	possibly damaging	0.90
R1495:Ccdc171	UTSW	4	83,681,095 (GRCm38)	nonsense	probably null
R1741:Ccdc171	UTSW	4	83,620,839 (GRCm38)	missense	probably damaging	0.97
R1742:Ccdc171	UTSW	4	83,681,284 (GRCm38)	missense	probably damaging	0.99
R1801:Ccdc171	UTSW	4	83,546,895 (GRCm38)	missense	probably benign	0.41
R4204:Ccdc171	UTSW	4	83,681,155 (GRCm38)	missense	probably benign	0.11
R4245:Ccdc171	UTSW	4	83,554,808 (GRCm38)	missense	probably damaging	0.99
R4502:Ccdc171	UTSW	4	83,864,323 (GRCm38)	missense	probably damaging	1.00
R4503:Ccdc171	UTSW	4	83,864,323 (GRCm38)	missense	probably damaging	1.00
R4533:Ccdc171	UTSW	4	83,657,342 (GRCm38)	missense	possibly damaging	0.66
R4589:Ccdc171	UTSW	4	83,549,618 (GRCm38)	missense	probably benign	0.11
R4782:Ccdc171	UTSW	4	83,681,016 (GRCm38)	missense	probably damaging	0.99
R4815:Ccdc171	UTSW	4	83,795,221 (GRCm38)	missense	probably damaging	1.00
R4868:Ccdc171	UTSW	4	83,694,332 (GRCm38)	missense	probably damaging	1.00
R4926:Ccdc171	UTSW	4	83,558,592 (GRCm38)	intron	probably benign
R4937:Ccdc171	UTSW	4	83,549,639 (GRCm38)	missense	probably damaging	1.00
R5120:Ccdc171	UTSW	4	83,558,526 (GRCm38)	intron	probably benign
R5185:Ccdc171	UTSW	4	83,663,655 (GRCm38)	missense	possibly damaging	0.84
R5210:Ccdc171	UTSW	4	83,554,856 (GRCm38)	missense	probably damaging	1.00
R5243:Ccdc171	UTSW	4	83,604,107 (GRCm38)	missense	probably damaging	1.00
R5484:Ccdc171	UTSW	4	83,693,962 (GRCm38)	missense	probably benign	0.00
R5574:Ccdc171	UTSW	4	83,693,753 (GRCm38)	missense	probably damaging	1.00
R6053:Ccdc171	UTSW	4	83,795,219 (GRCm38)	missense	probably damaging	1.00
R6135:Ccdc171	UTSW	4	83,554,850 (GRCm38)	missense	probably benign	0.12
R6140:Ccdc171	UTSW	4	83,696,317 (GRCm38)	nonsense	probably null
R6339:Ccdc171	UTSW	4	83,742,997 (GRCm38)	missense	probably damaging	1.00
R6452:Ccdc171	UTSW	4	83,864,290 (GRCm38)	missense	probably damaging	1.00
R7111:Ccdc171	UTSW	4	83,693,761 (GRCm38)	missense	probably benign	0.00
R7352:Ccdc171	UTSW	4	83,818,023 (GRCm38)	missense	possibly damaging	0.82
R7390:Ccdc171	UTSW	4	83,818,067 (GRCm38)	missense	probably damaging	1.00
R7626:Ccdc171	UTSW	4	83,580,775 (GRCm38)	nonsense	probably null
R7686:Ccdc171	UTSW	4	83,657,319 (GRCm38)	missense	unknown
R7705:Ccdc171	UTSW	4	83,557,956 (GRCm38)	missense	possibly damaging	0.87
R7934:Ccdc171	UTSW	4	83,696,255 (GRCm38)	nonsense	probably null
R8058:Ccdc171	UTSW	4	83,580,766 (GRCm38)	missense	probably damaging	0.99
R8114:Ccdc171	UTSW	4	83,696,300 (GRCm38)	missense	probably damaging	1.00
R8253:Ccdc171	UTSW	4	83,742,970 (GRCm38)	missense	probably damaging	0.99
R8257:Ccdc171	UTSW	4	83,696,369 (GRCm38)	missense	probably damaging	1.00
R8378:Ccdc171	UTSW	4	83,864,253 (GRCm38)	missense	possibly damaging	0.67
R8501:Ccdc171	UTSW	4	83,663,658 (GRCm38)	nonsense	probably null
R8517:Ccdc171	UTSW	4	83,743,061 (GRCm38)	missense	probably damaging	1.00
R8697:Ccdc171	UTSW	4	83,682,340 (GRCm38)	missense	probably damaging	1.00
R9149:Ccdc171	UTSW	4	83,694,275 (GRCm38)	missense	probably damaging	1.00
R9430:Ccdc171	UTSW	4	83,604,125 (GRCm38)	missense	probably damaging	1.00
R9642:Ccdc171	UTSW	4	83,681,288 (GRCm38)	missense	probably benign	0.12
R9686:Ccdc171	UTSW	4	83,549,682 (GRCm38)	missense	probably damaging	1.00
U24488:Ccdc171	UTSW	4	83,661,717 (GRCm38)	missense	probably damaging	1.00
Z1176:Ccdc171	UTSW	4	83,795,230 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCCATTGGTTAGGATCTTAGAC -3'
(R):5'- GCTGAAGTACAACACAGCAG -3'

Sequencing Primer
(F):5'- GCTCAGAATTCAGAACTTCAG -3'
(R):5'- CTGAAGTACAACACAGCAGATATG -3'

Posted On

2014-06-23