Mutagenetix > Incidental Mutation

Incidental Mutation 'R5679:Ccdc178'

442948

Institutional Source

Beutler Lab

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

MMRRC Submission

043176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5679 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21943954-22304453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22200486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 439 (K439N)

Ref Sequence

ENSEMBL: ENSMUSP00000111503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025160] [ENSMUST00000115837]

AlphaFold

Q8CDV0

Predicted Effect

probably benign
Transcript: ENSMUST00000025160
AA Change: K439N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: K439N

Domain	Start	End	E-Value	Type
coiled coil region	157	204	N/A	INTRINSIC
coiled coil region	226	266	N/A	INTRINSIC
coiled coil region	292	404	N/A	INTRINSIC
coiled coil region	514	541	N/A	INTRINSIC
coiled coil region	570	631	N/A	INTRINSIC
coiled coil region	665	705	N/A	INTRINSIC
low complexity region	720	732	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115837
AA Change: K439N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: K439N

Domain	Start	End	E-Value	Type
coiled coil region	157	204	N/A	INTRINSIC
coiled coil region	226	266	N/A	INTRINSIC
coiled coil region	292	404	N/A	INTRINSIC
coiled coil region	514	541	N/A	INTRINSIC
coiled coil region	570	631	N/A	INTRINSIC
coiled coil region	665	705	N/A	INTRINSIC
low complexity region	720	732	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	G	A	11: 61,107,994 (GRCm39)	R346Q	probably benign	Het
Bcat1	A	T	6: 144,953,474 (GRCm39)	F304L	probably damaging	Het
Cdkn2a	T	C	4: 89,195,098 (GRCm39)	D84G	possibly damaging	Het
Chst8	T	A	7: 34,374,729 (GRCm39)	H370L	probably damaging	Het
Dimt1	A	G	13: 107,084,108 (GRCm39)	T32A	possibly damaging	Het
Dph6	T	C	2: 114,398,422 (GRCm39)	I162V	probably benign	Het
E230025N22Rik	C	T	18: 36,818,435 (GRCm39)	G465R	possibly damaging	Het
Fam3d	T	C	14: 8,349,305 (GRCm38)	E215G	probably damaging	Het
Fbxw7	T	A	3: 84,884,794 (GRCm39)	N612K	probably damaging	Het
Gpr179	A	G	11: 97,227,571 (GRCm39)	V1528A	probably benign	Het
Gucy2g	T	A	19: 55,219,511 (GRCm39)	K370N	possibly damaging	Het
Ipo13	A	T	4: 117,752,029 (GRCm39)	W903R	probably damaging	Het
Itgax	T	A	7: 127,734,162 (GRCm39)	H311Q	probably benign	Het
Kmt2d	T	C	15: 98,752,153 (GRCm39)		probably benign	Het
Lox	T	C	18: 52,661,989 (GRCm39)	N138S	probably benign	Het
Mre11a	T	A	9: 14,698,215 (GRCm39)	I21N	probably damaging	Het
Ncan	T	G	8: 70,565,276 (GRCm39)	Y217S	probably damaging	Het
Nfil3	A	G	13: 53,122,527 (GRCm39)	F126L	possibly damaging	Het
Nfu1	T	C	6: 86,996,379 (GRCm39)	V110A	probably damaging	Het
Or12e8	T	C	2: 87,187,889 (GRCm39)	F34L	possibly damaging	Het
Or5e1	A	G	7: 108,354,203 (GRCm39)	I47V	probably damaging	Het
Or5g9	A	T	2: 85,552,390 (GRCm39)	I214F	probably damaging	Het
Palld	T	C	8: 62,137,979 (GRCm39)	Q592R	possibly damaging	Het
Pcdhac1	T	A	18: 37,225,530 (GRCm39)	L781Q	probably damaging	Het
Rcl1	A	G	19: 29,098,658 (GRCm39)		probably null	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Scrt1	T	A	15: 76,403,262 (GRCm39)	T243S	unknown	Het
Slc22a30	G	T	19: 8,313,135 (GRCm39)	T550K	possibly damaging	Het
Strc	A	G	2: 121,198,581 (GRCm39)	S1437P	probably benign	Het
Tecpr1	T	A	5: 144,144,241 (GRCm39)	I654F	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,377 (GRCm39)	M371V	probably benign	Het
Vmn2r11	T	C	5: 109,202,708 (GRCm39)	N123S	probably benign	Het
Wdr81	T	C	11: 75,343,749 (GRCm39)	D506G	probably damaging	Het
Xylt1	A	G	7: 117,242,877 (GRCm39)	D640G	probably damaging	Het
Zfp148	T	G	16: 33,316,156 (GRCm39)	M276R	probably damaging	Het
Zfp329	G	A	7: 12,543,958 (GRCm39)	T522I	probably damaging	Het

Other mutations in Ccdc178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Ccdc178	APN	18	21,977,968 (GRCm39)	missense	probably benign	0.05
IGL00743:Ccdc178	APN	18	22,278,501 (GRCm39)	splice site	probably benign
IGL00906:Ccdc178	APN	18	22,268,225 (GRCm39)	nonsense	probably null
IGL01352:Ccdc178	APN	18	22,152,031 (GRCm39)	splice site	probably benign
IGL01553:Ccdc178	APN	18	22,048,063 (GRCm39)	missense	probably damaging	0.97
IGL01607:Ccdc178	APN	18	22,200,778 (GRCm39)	missense	probably benign	0.01
IGL01733:Ccdc178	APN	18	22,157,869 (GRCm39)	splice site	probably benign
IGL01795:Ccdc178	APN	18	22,152,175 (GRCm39)	missense	probably benign	0.04
IGL01996:Ccdc178	APN	18	22,230,813 (GRCm39)	missense	probably damaging	0.99
IGL02939:Ccdc178	APN	18	22,253,775 (GRCm39)	missense	probably benign	0.01
IGL03213:Ccdc178	APN	18	22,253,748 (GRCm39)	missense	possibly damaging	0.89
IGL03253:Ccdc178	APN	18	21,978,068 (GRCm39)	nonsense	probably null
IGL03331:Ccdc178	APN	18	21,944,640 (GRCm39)	splice site	probably null
PIT4520001:Ccdc178	UTSW	18	22,200,470 (GRCm39)	missense	probably damaging	0.97
R0121:Ccdc178	UTSW	18	21,978,081 (GRCm39)	critical splice acceptor site	probably null
R0153:Ccdc178	UTSW	18	22,283,492 (GRCm39)	missense	probably benign	0.00
R0364:Ccdc178	UTSW	18	22,048,119 (GRCm39)	missense	probably damaging	0.97
R0604:Ccdc178	UTSW	18	22,200,500 (GRCm39)	missense	probably benign	0.01
R0709:Ccdc178	UTSW	18	22,200,719 (GRCm39)	missense	probably damaging	0.97
R0961:Ccdc178	UTSW	18	22,152,098 (GRCm39)	missense	possibly damaging	0.79
R1029:Ccdc178	UTSW	18	22,230,782 (GRCm39)	missense	possibly damaging	0.89
R1456:Ccdc178	UTSW	18	22,283,481 (GRCm39)	missense	possibly damaging	0.81
R1481:Ccdc178	UTSW	18	22,238,678 (GRCm39)	missense	probably benign	0.00
R1596:Ccdc178	UTSW	18	22,153,930 (GRCm39)	missense	possibly damaging	0.79
R1739:Ccdc178	UTSW	18	22,230,780 (GRCm39)	missense	possibly damaging	0.92
R1838:Ccdc178	UTSW	18	22,200,695 (GRCm39)	missense	probably damaging	0.97
R2214:Ccdc178	UTSW	18	22,048,047 (GRCm39)	missense	possibly damaging	0.73
R2401:Ccdc178	UTSW	18	22,264,471 (GRCm39)	critical splice donor site	probably null
R2679:Ccdc178	UTSW	18	21,944,613 (GRCm39)	missense	possibly damaging	0.90
R3051:Ccdc178	UTSW	18	22,268,188 (GRCm39)	missense	probably benign	0.05
R3150:Ccdc178	UTSW	18	22,200,709 (GRCm39)	missense	possibly damaging	0.95
R3151:Ccdc178	UTSW	18	21,944,618 (GRCm39)	missense	probably benign	0.00
R3177:Ccdc178	UTSW	18	22,200,709 (GRCm39)	missense	possibly damaging	0.95
R3277:Ccdc178	UTSW	18	22,200,709 (GRCm39)	missense	possibly damaging	0.95
R3903:Ccdc178	UTSW	18	22,156,152 (GRCm39)	missense	possibly damaging	0.79
R4184:Ccdc178	UTSW	18	22,157,841 (GRCm39)	missense	probably damaging	1.00
R4258:Ccdc178	UTSW	18	22,150,392 (GRCm39)	splice site	probably null
R4319:Ccdc178	UTSW	18	22,166,600 (GRCm39)	nonsense	probably null
R4321:Ccdc178	UTSW	18	22,166,600 (GRCm39)	nonsense	probably null
R4323:Ccdc178	UTSW	18	22,166,600 (GRCm39)	nonsense	probably null
R4509:Ccdc178	UTSW	18	22,200,449 (GRCm39)	missense	possibly damaging	0.94
R4672:Ccdc178	UTSW	18	22,283,501 (GRCm39)	nonsense	probably null
R5078:Ccdc178	UTSW	18	22,200,685 (GRCm39)	critical splice donor site	probably null
R5099:Ccdc178	UTSW	18	22,238,648 (GRCm39)	missense	probably benign
R5683:Ccdc178	UTSW	18	22,263,179 (GRCm39)	missense	probably benign	0.00
R6120:Ccdc178	UTSW	18	22,230,785 (GRCm39)	missense	probably benign	0.00
R6318:Ccdc178	UTSW	18	22,253,591 (GRCm39)	missense	possibly damaging	0.90
R6717:Ccdc178	UTSW	18	22,153,946 (GRCm39)	missense	probably damaging	0.98
R6853:Ccdc178	UTSW	18	22,242,933 (GRCm39)	missense	probably benign	0.00
R6980:Ccdc178	UTSW	18	22,238,620 (GRCm39)	missense	probably benign
R7019:Ccdc178	UTSW	18	22,283,495 (GRCm39)	missense	probably benign	0.00
R7246:Ccdc178	UTSW	18	22,242,811 (GRCm39)	missense	possibly damaging	0.92
R7322:Ccdc178	UTSW	18	22,238,606 (GRCm39)	missense	probably benign	0.15
R7340:Ccdc178	UTSW	18	22,150,518 (GRCm39)	missense	probably benign	0.17
R7371:Ccdc178	UTSW	18	22,263,195 (GRCm39)	missense	probably benign	0.01
R8003:Ccdc178	UTSW	18	21,977,944 (GRCm39)	critical splice donor site	probably null
R8371:Ccdc178	UTSW	18	21,944,561 (GRCm39)	missense	possibly damaging	0.90
R8670:Ccdc178	UTSW	18	22,230,719 (GRCm39)	missense	possibly damaging	0.89
R8695:Ccdc178	UTSW	18	22,157,809 (GRCm39)	missense	probably benign	0.02
R8885:Ccdc178	UTSW	18	22,200,721 (GRCm39)	missense	probably damaging	0.98
R9504:Ccdc178	UTSW	18	22,238,708 (GRCm39)	missense	possibly damaging	0.89
R9518:Ccdc178	UTSW	18	22,278,516 (GRCm39)	missense	possibly damaging	0.92
X0063:Ccdc178	UTSW	18	21,977,969 (GRCm39)	missense	probably benign	0.12
Z1177:Ccdc178	UTSW	18	22,242,788 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AGAGGAACCTTTGGAATAGACTC -3'
(R):5'- AAGCACTATGTCCTGCCTGTAC -3'

Sequencing Primer
(F):5'- TGAGTACTATCACATGACCTCAAGG -3'
(R):5'- CCAAGGATTTAAAACTAGCTCT -3'

Posted On

2016-11-09