Mutagenetix > Incidental Mutation

Incidental Mutation 'R2041:Ccdc17'

224895

Institutional Source

Beutler Lab

Gene Symbol

Ccdc17

Ensembl Gene

ENSMUSG00000034035

Gene Name

coiled-coil domain containing 17

Synonyms

1100001F07Rik

MMRRC Submission

040048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116453927-116457463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 116456789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 497 (N497K)

Ref Sequence

ENSEMBL: ENSMUSP00000059848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000051869] [ENSMUST00000081182]

AlphaFold

Q8CE13

Predicted Effect

probably benign
Transcript: ENSMUST00000030456

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC
low complexity region	492	503	N/A	INTRINSIC
TPR	528	561	3.05e0	SMART
TPR	570	603	2.38e-2	SMART
low complexity region	620	640	N/A	INTRINSIC
low complexity region	703	715	N/A	INTRINSIC
low complexity region	742	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030457

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
TPR	203	236	3.05e0	SMART
TPR	245	278	2.38e-2	SMART
low complexity region	295	315	N/A	INTRINSIC
low complexity region	378	390	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000051869
AA Change: N497K

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

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: N497K

Domain	Start	End	E-Value	Type
coiled coil region	97	161	N/A	INTRINSIC
coiled coil region	219	270	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	523	537	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081182

SMART Domains

Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	6.2e-2	SMART
low complexity region	84	99	N/A	INTRINSIC
low complexity region	106	126	N/A	INTRINSIC
low complexity region	140	151	N/A	INTRINSIC
TPR	176	209	1.4e-2	SMART
TPR	218	251	1.1e-4	SMART
low complexity region	268	288	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
low complexity region	390	407	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148260

Meta Mutation Damage Score

0.1867

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,211 (GRCm39)	D265E	probably damaging	Het
2610021A01Rik	A	G	7: 41,275,403 (GRCm39)	R369G	possibly damaging	Het
Actr3b	T	C	5: 25,965,128 (GRCm39)		probably null	Het
Adamts12	A	T	15: 11,215,821 (GRCm39)	M281L	probably damaging	Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Akap12	C	T	10: 4,306,489 (GRCm39)	P1100S	probably benign	Het
Alox8	T	A	11: 69,088,517 (GRCm39)	H40L	possibly damaging	Het
Anks1	T	A	17: 28,227,388 (GRCm39)	F659L	probably damaging	Het
Asxl3	G	T	18: 22,656,508 (GRCm39)	R1506L	probably benign	Het
Bicd2	A	G	13: 49,495,252 (GRCm39)	T36A	probably benign	Het
Ccar1	A	T	10: 62,601,827 (GRCm39)	L448Q	probably damaging	Het
Chek2	T	C	5: 110,996,530 (GRCm39)	I164T	probably damaging	Het
Cntnap5c	T	C	17: 58,411,765 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,505,984 (GRCm39)	D669E	probably benign	Het
Cpsf6	A	G	10: 117,195,033 (GRCm39)	I482T	probably damaging	Het
Csf3	C	T	11: 98,592,483 (GRCm39)	S65L	possibly damaging	Het
Dlc1	A	G	8: 37,049,922 (GRCm39)	Y1049H	probably damaging	Het
Dnah6	T	C	6: 73,050,422 (GRCm39)	D3048G	probably damaging	Het
Eif4g3	T	A	4: 137,832,617 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,084,070 (GRCm39)	K195R	probably damaging	Het
Epn1	T	C	7: 5,086,874 (GRCm39)	S41P	probably damaging	Het
Fam120a	C	A	13: 49,051,243 (GRCm39)	V721L	probably benign	Het
Fchsd1	T	A	18: 38,100,729 (GRCm39)		probably null	Het
Fer1l6	G	A	15: 58,430,155 (GRCm39)	G194D	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fyb1	A	C	15: 6,674,268 (GRCm39)	T635P	possibly damaging	Het
Gpr153	A	G	4: 152,367,810 (GRCm39)	S554G	probably benign	Het
Grm1	A	G	10: 10,622,347 (GRCm39)	F459L	probably damaging	Het
H60c	C	T	10: 3,209,972 (GRCm39)	G105D	probably damaging	Het
Ifnlr1	T	A	4: 135,433,148 (GRCm39)	M528K	possibly damaging	Het
Lama4	A	T	10: 38,945,987 (GRCm39)	D790V	probably damaging	Het
Mfsd13b	T	C	7: 120,591,139 (GRCm39)		probably benign	Het
Mis12	T	A	11: 70,916,132 (GRCm39)	I55N	probably damaging	Het
Morn1	T	C	4: 155,175,399 (GRCm39)	Y103H	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Ndst3	C	A	3: 123,465,864 (GRCm39)	G36V	probably benign	Het
Nlrp4a	T	A	7: 26,149,611 (GRCm39)	M406K	probably damaging	Het
Or4p18	T	C	2: 88,232,568 (GRCm39)	T237A	probably damaging	Het
Or51t4	T	A	7: 102,598,170 (GRCm39)	V156E	probably damaging	Het
Or5b106	A	T	19: 13,124,041 (GRCm39)		probably benign	Het
Or7g32	A	T	9: 19,408,131 (GRCm39)	D29V	probably benign	Het
Or9m1	T	C	2: 87,733,141 (GRCm39)	N293S	probably damaging	Het
Pars2	A	G	4: 106,510,814 (GRCm39)	T199A	probably damaging	Het
Plcb4	C	T	2: 135,780,191 (GRCm39)	T172I	probably damaging	Het
Pomgnt2	A	T	9: 121,811,354 (GRCm39)	W476R	probably benign	Het
Psg23	T	A	7: 18,348,703 (GRCm39)	S35C	possibly damaging	Het
Pycr3	T	A	15: 75,791,144 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rgs2	A	G	1: 143,877,960 (GRCm39)	F80S	probably damaging	Het
Sall1	A	G	8: 89,759,429 (GRCm39)	L225P	probably benign	Het
Setd3	A	G	12: 108,079,651 (GRCm39)	I284T	possibly damaging	Het
Slc4a9	C	T	18: 36,663,846 (GRCm39)	T290I	possibly damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Ube3b	T	C	5: 114,525,294 (GRCm39)	L39P	probably damaging	Het
Ubr2	C	A	17: 47,296,973 (GRCm39)	R269L	probably damaging	Het
Vrk2	A	T	11: 26,497,914 (GRCm39)	I90K	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp984	A	T	4: 147,839,796 (GRCm39)	C352S	probably damaging	Het

Other mutations in Ccdc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Ccdc17	APN	4	116,455,063 (GRCm39)	missense	probably benign
IGL03106:Ccdc17	APN	4	116,454,033 (GRCm39)	splice site	probably null
IGL03169:Ccdc17	APN	4	116,454,957 (GRCm39)	missense	probably damaging	1.00
IGL03288:Ccdc17	APN	4	116,456,626 (GRCm39)	missense	probably damaging	1.00
dandy	UTSW	4	116,456,789 (GRCm39)	missense	probably damaging	1.00
Dondi	UTSW	4	116,455,745 (GRCm39)	missense	probably damaging	1.00
G5030:Ccdc17	UTSW	4	116,455,699 (GRCm39)	missense	probably benign	0.42
R0628:Ccdc17	UTSW	4	116,455,745 (GRCm39)	missense	probably damaging	1.00
R1033:Ccdc17	UTSW	4	116,454,077 (GRCm39)	nonsense	probably null
R3107:Ccdc17	UTSW	4	116,455,464 (GRCm39)	missense	probably benign	0.02
R3122:Ccdc17	UTSW	4	116,456,749 (GRCm39)	unclassified	probably benign
R4498:Ccdc17	UTSW	4	116,454,438 (GRCm39)	unclassified	probably benign
R5705:Ccdc17	UTSW	4	116,454,066 (GRCm39)	missense	probably benign	0.10
R6052:Ccdc17	UTSW	4	116,457,145 (GRCm39)	splice site	probably null
R6083:Ccdc17	UTSW	4	116,454,123 (GRCm39)	missense	possibly damaging	0.89
R6925:Ccdc17	UTSW	4	116,455,407 (GRCm39)	missense	probably damaging	1.00
R7677:Ccdc17	UTSW	4	116,454,962 (GRCm39)	critical splice donor site	probably null
R7847:Ccdc17	UTSW	4	116,457,103 (GRCm39)	missense	probably benign	0.34
R8195:Ccdc17	UTSW	4	116,456,213 (GRCm39)	missense	probably damaging	0.99
R8195:Ccdc17	UTSW	4	116,456,211 (GRCm39)	missense	possibly damaging	0.75
R8428:Ccdc17	UTSW	4	116,456,823 (GRCm39)	missense	probably damaging	1.00
R8750:Ccdc17	UTSW	4	116,457,129 (GRCm39)	missense	possibly damaging	0.93
R9296:Ccdc17	UTSW	4	116,456,586 (GRCm39)	missense	probably damaging	1.00
R9483:Ccdc17	UTSW	4	116,454,144 (GRCm39)	missense	probably benign	0.42
R9526:Ccdc17	UTSW	4	116,455,994 (GRCm39)	missense	possibly damaging	0.69
R9589:Ccdc17	UTSW	4	116,454,791 (GRCm39)	missense	probably benign	0.25
R9715:Ccdc17	UTSW	4	116,455,090 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCCTCACTATTGCTATTTGAC -3'
(R):5'- GCCACATGGTATTTCATGGGTAG -3'

Sequencing Primer
(F):5'- CTATTTGACCAAGATCTGAGGGTGC -3'
(R):5'- CATGGTATTTCATGGGTAGGTTTAAG -3'

Posted On

2014-08-25