Mutagenetix > Incidental Mutation

Incidental Mutation 'R8331:Ccdc154'

644397

Institutional Source

Beutler Lab

Gene Symbol

Ccdc154

Ensembl Gene

ENSMUSG00000059562

Gene Name

coiled-coil domain containing 154

Synonyms

ntl, LOC207209

MMRRC Submission

067860-MU

Accession Numbers

Essential gene?

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

Stock #

R8331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25381435-25390887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25386927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 319 (K319E)

Ref Sequence

ENSEMBL: ENSMUSP00000138090 (fasta)

Gene Model

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

AlphaFold

Q6RUT8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073277
AA Change: K326E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
AA Change: K326E

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 benign
Transcript: ENSMUST00000182292
AA Change: K317E

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
AA Change: K317E

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 benign
Transcript: ENSMUST00000182621
AA Change: K319E

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
AA Change: K319E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	A	12: 84,650,726 (GRCm39)	A545S	probably damaging	Het
Alox12e	A	T	11: 70,211,923 (GRCm39)	S195R	probably benign	Het
Angpt1	T	C	15: 42,539,653 (GRCm39)	R69G	probably damaging	Het
Apob	A	G	12: 8,051,882 (GRCm39)	Q1149R	probably benign	Het
As3mt	A	T	19: 46,697,445 (GRCm39)	E71V	probably damaging	Het
Atp9a	A	T	2: 168,517,217 (GRCm39)	V372E	probably benign	Het
Bmal1	C	A	7: 112,912,703 (GRCm39)	N586K	probably benign	Het
Bmp2k	T	C	5: 97,192,928 (GRCm39)	F259S	probably damaging	Het
Cacna1c	T	C	6: 118,607,290 (GRCm39)	T1364A		Het
Casp7	T	A	19: 56,429,397 (GRCm39)	I261N	probably damaging	Het
Cdc42bpg	C	A	19: 6,363,477 (GRCm39)	L446I	probably benign	Het
Cdkl3	A	T	11: 51,917,704 (GRCm39)	T334S	probably benign	Het
Cep250	T	A	2: 155,832,173 (GRCm39)	L1366Q	probably damaging	Het
Chp2	G	A	7: 121,821,133 (GRCm39)	D165N	probably damaging	Het
Ckap5	T	A	2: 91,406,545 (GRCm39)	M782K	probably damaging	Het
Col20a1	T	A	2: 180,638,559 (GRCm39)	I433N	possibly damaging	Het
Col4a2	A	T	8: 11,463,985 (GRCm39)	R320*	probably null	Het
Ctsc	A	G	7: 87,946,328 (GRCm39)	H119R	possibly damaging	Het
Cubn	T	C	2: 13,345,053 (GRCm39)	H2121R	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
D630045J12Rik	T	C	6: 38,125,409 (GRCm39)	E1535G	probably damaging	Het
Dido1	A	T	2: 180,302,242 (GRCm39)	D1887E	probably benign	Het
Dnah6	T	C	6: 73,001,983 (GRCm39)	E3903G	probably benign	Het
Eif4a3l2	T	C	6: 116,529,323 (GRCm39)	I400T	probably damaging	Het
Ep300	T	C	15: 81,485,411 (GRCm39)	S133P	unknown	Het
Ercc3	T	C	18: 32,373,871 (GRCm39)	S73P	probably damaging	Het
Fis1	T	C	5: 136,991,987 (GRCm39)		probably null	Het
Fscb	T	A	12: 64,520,242 (GRCm39)	D408V	probably benign	Het
Gm17087	A	G	17: 8,785,539 (GRCm39)	W55R	probably damaging	Het
Gm3404	A	T	5: 146,462,759 (GRCm39)	S41C	probably damaging	Het
Greb1l	T	C	18: 10,458,706 (GRCm39)	S96P	possibly damaging	Het
Irf3	C	T	7: 44,650,383 (GRCm39)	P300S	probably damaging	Het
Klk1b4	G	A	7: 43,860,999 (GRCm39)	C214Y	probably damaging	Het
Krtap5-3	T	A	7: 141,755,563 (GRCm39)	C133*	probably null	Het
Map3k12	T	A	15: 102,410,766 (GRCm39)	R448*	probably null	Het
Map4k2	C	G	19: 6,402,853 (GRCm39)	A738G	probably damaging	Het
Matn2	A	T	15: 34,428,827 (GRCm39)	K730N	probably damaging	Het
Mpp3	C	T	11: 101,902,541 (GRCm39)		probably null	Het
N4bp2	T	A	5: 65,964,943 (GRCm39)	D997E	probably damaging	Het
Nav2	C	T	7: 49,102,371 (GRCm39)	P390S	probably benign	Het
Nme8	A	G	13: 19,843,036 (GRCm39)	S380P	probably damaging	Het
Nup210	C	T	6: 91,030,648 (GRCm39)	D878N	possibly damaging	Het
Odad3	C	T	9: 21,903,007 (GRCm39)	R441H	probably damaging	Het
Or4k49	A	G	2: 111,494,727 (GRCm39)	D52G	possibly damaging	Het
Or8c18	A	G	9: 38,203,381 (GRCm39)	I47V	possibly damaging	Het
Osbpl9	C	A	4: 108,923,378 (GRCm39)	W427L	probably damaging	Het
Pcdhb12	T	C	18: 37,570,342 (GRCm39)	V496A	probably damaging	Het
Pdlim1	G	A	19: 40,218,995 (GRCm39)	T212I	possibly damaging	Het
Phc2	C	T	4: 128,605,987 (GRCm39)	Q270*	probably null	Het
Pi4kb	G	A	3: 94,903,995 (GRCm39)	R527Q	probably null	Het
Platr25	G	T	13: 62,848,717 (GRCm39)	H48Q	probably benign	Het
Polr1a	C	T	6: 71,953,163 (GRCm39)	T1577M	probably damaging	Het
Ptprf	C	T	4: 118,083,263 (GRCm39)	V915M	probably benign	Het
Ptprh	A	G	7: 4,552,480 (GRCm39)	L928S	probably damaging	Het
Qrsl1	T	C	10: 43,752,521 (GRCm39)	N434S	probably damaging	Het
Slc44a4	T	A	17: 35,140,545 (GRCm39)	L246H	probably damaging	Het
Steap3	A	T	1: 120,169,218 (GRCm39)	C360S	possibly damaging	Het
Stk10	A	G	11: 32,538,928 (GRCm39)	T256A		Het
Tatdn3	A	T	1: 190,778,408 (GRCm39)	L261Q	probably damaging	Het
Thnsl1	T	A	2: 21,216,985 (GRCm39)	F246L	probably benign	Het
Thsd7a	A	G	6: 12,471,157 (GRCm39)	V487A		Het
Tmem41a	A	C	16: 21,766,116 (GRCm39)		probably null	Het
Togaram2	G	A	17: 72,036,221 (GRCm39)	V924M	probably damaging	Het
Trabd	T	C	15: 88,969,131 (GRCm39)	F185S	probably damaging	Het
Traf1	T	C	2: 34,838,370 (GRCm39)	D156G	probably damaging	Het
Ttn	T	C	2: 76,710,482 (GRCm39)	E8513G	unknown	Het
Txlna	C	A	4: 129,533,279 (GRCm39)	S83I	probably damaging	Het
Utrn	T	G	10: 12,490,363 (GRCm39)	T6P	probably benign	Het
Vmn2r26	T	A	6: 124,038,887 (GRCm39)	S821T	probably benign	Het
Wdhd1	A	T	14: 47,509,702 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,930,794 (GRCm39)	I917V	probably benign	Het
Wscd2	A	G	5: 113,688,996 (GRCm39)	M1V	probably null	Het
Xkr6	A	G	14: 64,056,392 (GRCm39)	H357R	unknown	Het
Zfhx2	G	T	14: 55,309,444 (GRCm39)	T885K	probably benign	Het
Zfp583	C	T	7: 6,320,554 (GRCm39)	E153K	probably benign	Het
Zmynd11	A	G	13: 9,745,190 (GRCm39)	M243T	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
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
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'- ATCCTCAGAGAGTACACGGC -3'
(R):5'- GTCTAACCGACAGCTTCAGG -3'

Sequencing Primer
(F):5'- CCTCAGAGAGTACACGGCAGATAG -3'
(R):5'- CTAACCGACAGCTTCAGGGGATG -3'

Posted On

2020-09-02