Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Ccdc154'

56538

Institutional Source

Beutler Lab

Gene Symbol

Ccdc154

Ensembl Gene

ENSMUSG00000059562

Gene Name

coiled-coil domain containing 154

Synonyms

ntl, LOC207209

MMRRC Submission

038773-MU

Accession Numbers

Essential gene?

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

Stock #

R0583 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25381435-25390887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25387398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 375 (D375E)

Ref Sequence

ENSEMBL: ENSMUSP00000138191 (fasta)

Gene Model

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

AlphaFold

Q6RUT8

Predicted Effect

probably benign
Transcript: ENSMUST00000073277
AA Change: D384E

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
AA Change: D384E

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

possibly damaging
Transcript: ENSMUST00000182292
AA Change: D375E

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
AA Change: D375E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182621
AA Change: D377E

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
AA Change: D377E

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: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,926 (GRCm39)	S483P	probably benign	Het
5730480H06Rik	A	G	5: 48,537,470 (GRCm39)	H169R	probably damaging	Het
Actn1	T	A	12: 80,245,803 (GRCm39)	I127F	probably damaging	Het
Cadm3	T	G	1: 173,168,738 (GRCm39)	T277P	probably benign	Het
Cast	T	C	13: 74,861,797 (GRCm39)	T629A	probably damaging	Het
Cblc	C	A	7: 19,526,486 (GRCm39)	C201F	probably benign	Het
Cdk6	A	G	5: 3,523,183 (GRCm39)	D201G	probably damaging	Het
Cep95	T	C	11: 106,705,449 (GRCm39)	V478A	probably benign	Het
Ciita	T	C	16: 10,341,668 (GRCm39)		probably null	Het
Clec4e	A	G	6: 123,260,653 (GRCm39)	F135S	probably damaging	Het
Cntn6	A	G	6: 104,753,275 (GRCm39)	D337G	possibly damaging	Het
Crlf3	A	T	11: 79,950,107 (GRCm39)	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,335,339 (GRCm39)	F93I	probably damaging	Het
Dop1b	T	C	16: 93,552,374 (GRCm39)	I271T	probably benign	Het
Duxf1	G	A	10: 58,059,210 (GRCm39)	L515F	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,631,301 (GRCm39)	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,029,095 (GRCm39)	V244A	possibly damaging	Het
Ikzf5	A	G	7: 130,993,514 (GRCm39)		probably null	Het
Ilvbl	T	A	10: 78,419,101 (GRCm39)	V450E	probably damaging	Het
Kcns3	T	G	12: 11,141,479 (GRCm39)	N407H	probably damaging	Het
Klhl11	T	C	11: 100,355,150 (GRCm39)	K224E	possibly damaging	Het
Klra17	T	A	6: 129,845,656 (GRCm39)	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,389,263 (GRCm39)	D2054G	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrgbp	A	G	2: 180,226,239 (GRCm39)	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Muc5ac	C	A	7: 141,361,345 (GRCm39)	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,410,435 (GRCm39)	Y1269*	probably null	Het
Myef2	T	C	2: 124,939,901 (GRCm39)		probably null	Het
Myg1	C	T	15: 102,246,225 (GRCm39)	Q367*	probably null	Het
Nalcn	T	C	14: 123,531,755 (GRCm39)	N1365S	possibly damaging	Het
Nfu1	T	C	6: 86,986,934 (GRCm39)	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,412,228 (GRCm39)	Q132L	probably damaging	Het
Or10a3b	C	T	7: 108,444,621 (GRCm39)	A199T	possibly damaging	Het
Or8k38	T	A	2: 86,488,704 (GRCm39)	I33F	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prh1	A	T	6: 132,548,796 (GRCm39)	Q101L	unknown	Het
Ribc2	A	T	15: 85,017,115 (GRCm39)		probably null	Het
Rnf19a	C	A	15: 36,253,151 (GRCm39)	R396L	probably damaging	Het
Sdad1	A	G	5: 92,452,923 (GRCm39)	I105T	probably damaging	Het
Sec24b	G	T	3: 129,834,960 (GRCm39)	Y79*	probably null	Het
Tatdn2	A	G	6: 113,679,486 (GRCm39)	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952 (GRCm39)	F725V	probably damaging	Het
Themis3	T	C	17: 66,866,748 (GRCm39)	D164G	probably benign	Het
Ubxn7	T	C	16: 32,194,732 (GRCm39)	W220R	probably damaging	Het
Usp33	C	A	3: 152,073,891 (GRCm39)	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,897,043 (GRCm39)	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,837,930 (GRCm39)	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,076,262 (GRCm39)	V340A	probably damaging	Het
Zfta	A	G	19: 7,397,639 (GRCm39)	D62G	probably damaging	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
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
R4853:Ccdc154	UTSW	17	25,389,941 (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'- CACAGTCCCTTTCCGGTAGCAC -3'
(R):5'- TGCAGATCTAGCCTCCAGCTCAG -3'

Sequencing Primer
(F):5'- CTCTGGTCCACAGGATCAC -3'
(R):5'- CTCAGAGCTAGACAGTGGTC -3'

Posted On

2013-07-11