Mutagenetix > Incidental Mutation

Incidental Mutation 'R4853:Ccdc154'

373746

Institutional Source

Beutler Lab

Gene Symbol

Ccdc154

Ensembl Gene

ENSMUSG00000059562

Gene Name

coiled-coil domain containing 154

Synonyms

ntl, LOC207209

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25381435-25390887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25389941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 524 (I524F)

Ref Sequence

ENSEMBL: ENSMUSP00000138191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073277] [ENSMUST00000182292] [ENSMUST00000182621] [ENSMUST00000183178] [ENSMUST00000224277]

AlphaFold

Q6RUT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073277
AA Change: I533F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
AA Change: I533F

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:DUF4631	48	578	1.4e-263	PFAM
low complexity region	631	642	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182292
AA Change: I524F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
AA Change: I524F

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:DUF4631	47	571	1.3e-250	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000182621
AA Change: I526F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
AA Change: I526F

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:DUF4631	47	573	2.9e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183178

SMART Domains

Protein: ENSMUSP00000138659
Gene: ENSMUSG00000059562

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224277

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Abr	T	C	11: 76,355,087 (GRCm39)	T244A	probably damaging	Het
Adcy10	T	A	1: 165,375,782 (GRCm39)	N803K	probably benign	Het
Afm	T	C	5: 90,699,326 (GRCm39)	F590S	probably damaging	Het
Agk	T	C	6: 40,360,753 (GRCm39)		probably null	Het
Agrn	C	T	4: 156,270,007 (GRCm39)		probably null	Het
Apon	A	G	10: 128,090,951 (GRCm39)	S210G	probably benign	Het
Atad5	A	G	11: 79,986,098 (GRCm39)	E395G	probably damaging	Het
AU018091	A	T	7: 3,205,861 (GRCm39)	L671H	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Clspn	T	A	4: 126,460,348 (GRCm39)	I525K	probably damaging	Het
Cpne5	A	T	17: 29,380,172 (GRCm39)	V448E	probably benign	Het
Cps1	A	G	1: 67,195,361 (GRCm39)	I261V	possibly damaging	Het
Crybb2	T	C	5: 113,211,054 (GRCm39)	E78G	probably damaging	Het
Ctps1	G	T	4: 120,411,207 (GRCm39)	L270I	probably damaging	Het
Cyp19a1	T	C	9: 54,074,060 (GRCm39)	D431G	probably benign	Het
Cyp3a57	T	G	5: 145,302,489 (GRCm39)	V95G	probably damaging	Het
Ddx54	A	G	5: 120,761,694 (GRCm39)	D490G	probably benign	Het
Dnai2	A	T	11: 114,635,917 (GRCm39)	I301F	probably benign	Het
Dsg1b	A	G	18: 20,541,793 (GRCm39)	S767G	probably benign	Het
Dsg1b	A	T	18: 20,523,189 (GRCm39)		probably null	Het
Ermap	G	A	4: 119,044,451 (GRCm39)	P115L	probably damaging	Het
Esrra	T	G	19: 6,897,440 (GRCm39)	T106P	probably damaging	Het
Exoc5	GTATT	GT	14: 49,289,826 (GRCm39)		probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,737,270 (GRCm39)	K203E	probably damaging	Het
H2ac13	A	G	13: 21,900,866 (GRCm39)	E92G	probably damaging	Het
Habp2	G	A	19: 56,299,623 (GRCm39)		probably null	Het
Kcnh3	A	C	15: 99,139,970 (GRCm39)	D952A	possibly damaging	Het
Kif27	T	C	13: 58,459,072 (GRCm39)	K920E	probably benign	Het
Kmt2e	C	T	5: 23,707,339 (GRCm39)	P1634L	probably damaging	Het
Lamc1	A	T	1: 153,104,846 (GRCm39)	M1312K	possibly damaging	Het
Myh14	T	A	7: 44,257,872 (GRCm39)	Q1921L	probably damaging	Het
Ncor2	A	G	5: 125,102,169 (GRCm39)	V68A	probably damaging	Het
Ncor2	A	G	5: 125,158,247 (GRCm39)	F444L	unknown	Het
Nedd9	A	G	13: 41,469,837 (GRCm39)	Y439H	probably benign	Het
Nsd1	T	A	13: 55,416,317 (GRCm39)	H1454Q	probably benign	Het
Or10v9	T	A	19: 11,832,645 (GRCm39)	D224V	probably benign	Het
Or51v8	G	T	7: 103,320,010 (GRCm39)	T76K	probably damaging	Het
Or5i1	T	G	2: 87,613,526 (GRCm39)	F214C	probably benign	Het
Or9m1b	A	G	2: 87,836,448 (GRCm39)	S216P	probably damaging	Het
P4ha2	G	A	11: 54,010,996 (GRCm39)	S337N	probably benign	Het
Pck1	T	A	2: 172,996,507 (GRCm39)	Y140*	probably null	Het
Phldb2	T	C	16: 45,623,079 (GRCm39)	M656V	probably damaging	Het
Pif1	T	C	9: 65,500,858 (GRCm39)	W559R	probably damaging	Het
Pllp	T	C	8: 95,406,022 (GRCm39)	Y87C	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,046 (GRCm39)	N623D	probably benign	Het
Prkcg	C	T	7: 3,367,469 (GRCm39)	R345C	probably damaging	Het
Rgl1	T	C	1: 152,433,325 (GRCm39)	I147V	probably benign	Het
Sdk1	T	A	5: 142,132,018 (GRCm39)	L1649Q	probably damaging	Het
Sema3b	C	T	9: 107,479,266 (GRCm39)		probably null	Het
Sh3rf3	G	A	10: 58,919,341 (GRCm39)	R486H	probably damaging	Het
Shoc1	T	C	4: 59,072,345 (GRCm39)	K624E	possibly damaging	Het
Slain2	A	G	5: 73,105,941 (GRCm39)	N192S	probably benign	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Strip1	T	C	3: 107,524,232 (GRCm39)	K562E	possibly damaging	Het
Sumf1	A	G	6: 108,162,456 (GRCm39)	L21S	probably benign	Het
Sytl3	T	A	17: 7,005,164 (GRCm39)	S380T	probably damaging	Het
Tgfb1i1	T	A	7: 127,847,840 (GRCm39)	C74*	probably null	Het
Tmprss15	T	G	16: 78,757,479 (GRCm39)	I939L	probably benign	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,215,639 (GRCm39)	V139E	probably damaging	Het
Wdr27	A	G	17: 15,137,475 (GRCm39)		probably null	Het
Zkscan14	A	G	5: 145,132,001 (GRCm39)	V510A	probably benign	Het

Other mutations in Ccdc154

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02117:Ccdc154	APN	17	25,386,792 (GRCm39)	critical splice donor site	probably null
IGL02427:Ccdc154	APN	17	25,390,731 (GRCm39)	critical splice acceptor site	probably null
IGL03188:Ccdc154	APN	17	25,383,067 (GRCm39)	critical splice acceptor site	probably null
R0256:Ccdc154	UTSW	17	25,389,606 (GRCm39)	missense	probably benign	0.19
R0328:Ccdc154	UTSW	17	25,390,779 (GRCm39)	missense	probably benign	0.25
R0583:Ccdc154	UTSW	17	25,387,398 (GRCm39)	missense	possibly damaging	0.60
R0671:Ccdc154	UTSW	17	25,386,259 (GRCm39)	splice site	probably benign
R0898:Ccdc154	UTSW	17	25,383,055 (GRCm39)	splice site	probably benign
R1758:Ccdc154	UTSW	17	25,382,156 (GRCm39)	missense	probably damaging	0.99
R2165:Ccdc154	UTSW	17	25,389,864 (GRCm39)	missense	probably damaging	1.00
R2169:Ccdc154	UTSW	17	25,389,897 (GRCm39)	missense	probably damaging	1.00
R4810:Ccdc154	UTSW	17	25,382,472 (GRCm39)	missense	probably damaging	1.00
R4959:Ccdc154	UTSW	17	25,389,888 (GRCm39)	missense	probably damaging	1.00
R4973:Ccdc154	UTSW	17	25,389,888 (GRCm39)	missense	probably damaging	1.00
R5040:Ccdc154	UTSW	17	25,383,566 (GRCm39)	missense	probably benign	0.04
R5153:Ccdc154	UTSW	17	25,387,315 (GRCm39)	missense	probably damaging	1.00
R5179:Ccdc154	UTSW	17	25,390,137 (GRCm39)	missense	probably benign	0.43
R5709:Ccdc154	UTSW	17	25,389,118 (GRCm39)	missense	probably damaging	1.00
R5852:Ccdc154	UTSW	17	25,382,183 (GRCm39)	missense	probably benign
R5886:Ccdc154	UTSW	17	25,390,792 (GRCm39)	missense	probably benign
R6191:Ccdc154	UTSW	17	25,386,945 (GRCm39)	missense	probably damaging	1.00
R7101:Ccdc154	UTSW	17	25,382,442 (GRCm39)	missense	probably benign	0.00
R7888:Ccdc154	UTSW	17	25,383,578 (GRCm39)	missense	possibly damaging	0.94
R7896:Ccdc154	UTSW	17	25,390,800 (GRCm39)	missense	probably benign	0.00
R8331:Ccdc154	UTSW	17	25,386,927 (GRCm39)	missense	probably benign	0.29
R8334:Ccdc154	UTSW	17	25,390,581 (GRCm39)	missense	probably damaging	1.00
R8845:Ccdc154	UTSW	17	25,390,138 (GRCm39)	missense	probably damaging	0.98
R8880:Ccdc154	UTSW	17	25,389,129 (GRCm39)	missense	probably benign	0.04
R9040:Ccdc154	UTSW	17	25,382,793 (GRCm39)	missense	possibly damaging	0.87
R9153:Ccdc154	UTSW	17	25,382,152 (GRCm39)	missense	probably damaging	0.99
R9262:Ccdc154	UTSW	17	25,389,160 (GRCm39)	missense	probably damaging	0.97
R9564:Ccdc154	UTSW	17	25,387,381 (GRCm39)	missense	possibly damaging	0.71
R9621:Ccdc154	UTSW	17	25,386,355 (GRCm39)	missense	probably damaging	1.00
R9654:Ccdc154	UTSW	17	25,386,684 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AAGTTGAGCCCTGTGACAG -3'
(R):5'- GAGTTTTCTCTCACCAGCTTGG -3'

Sequencing Primer
(F):5'- GTGACAGCCTCTTCCTTGGG -3'
(R):5'- CCTGAAGGCTGTTCTCCAAC -3'

Posted On

2016-03-01