Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Ccdc178'

216242

Institutional Source

Beutler Lab

Gene Symbol

Ccdc178

Ensembl Gene

ENSMUSG00000024306

Gene Name

coiled coil domain containing 178

Synonyms

4921528I01Rik

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

21810897-22171396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22067662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 413 (Y413H)

Ref Sequence

ENSEMBL: ENSMUSP00000111503 (fasta)

Gene Model

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

AlphaFold

Q8CDV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025160
AA Change: Y413H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025160
Gene: ENSMUSG00000024306
AA Change: Y413H

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 damaging
Transcript: ENSMUST00000115837
AA Change: Y413H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111503
Gene: ENSMUSG00000024306
AA Change: Y413H

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

Meta Mutation Damage Score

0.1066

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Ccdc178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Ccdc178	APN	18	21844911	missense	probably benign	0.05
IGL00743:Ccdc178	APN	18	22145444	splice site	probably benign
IGL00906:Ccdc178	APN	18	22135168	nonsense	probably null
IGL01352:Ccdc178	APN	18	22018974	splice site	probably benign
IGL01553:Ccdc178	APN	18	21915006	missense	probably damaging	0.97
IGL01607:Ccdc178	APN	18	22067721	missense	probably benign	0.01
IGL01733:Ccdc178	APN	18	22024812	splice site	probably benign
IGL01795:Ccdc178	APN	18	22019118	missense	probably benign	0.04
IGL01996:Ccdc178	APN	18	22097756	missense	probably damaging	0.99
IGL02939:Ccdc178	APN	18	22120718	missense	probably benign	0.01
IGL03213:Ccdc178	APN	18	22120691	missense	possibly damaging	0.89
IGL03253:Ccdc178	APN	18	21845011	nonsense	probably null
IGL03331:Ccdc178	APN	18	21811583	splice site	probably null
PIT4520001:Ccdc178	UTSW	18	22067413	missense	probably damaging	0.97
R0121:Ccdc178	UTSW	18	21845024	critical splice acceptor site	probably null
R0153:Ccdc178	UTSW	18	22150435	missense	probably benign	0.00
R0364:Ccdc178	UTSW	18	21915062	missense	probably damaging	0.97
R0604:Ccdc178	UTSW	18	22067443	missense	probably benign	0.01
R0961:Ccdc178	UTSW	18	22019041	missense	possibly damaging	0.79
R1029:Ccdc178	UTSW	18	22097725	missense	possibly damaging	0.89
R1456:Ccdc178	UTSW	18	22150424	missense	possibly damaging	0.81
R1481:Ccdc178	UTSW	18	22105621	missense	probably benign	0.00
R1596:Ccdc178	UTSW	18	22020873	missense	possibly damaging	0.79
R1739:Ccdc178	UTSW	18	22097723	missense	possibly damaging	0.92
R1838:Ccdc178	UTSW	18	22067638	missense	probably damaging	0.97
R2214:Ccdc178	UTSW	18	21914990	missense	possibly damaging	0.73
R2401:Ccdc178	UTSW	18	22131414	critical splice donor site	probably null
R2679:Ccdc178	UTSW	18	21811556	missense	possibly damaging	0.90
R3051:Ccdc178	UTSW	18	22135131	missense	probably benign	0.05
R3150:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3151:Ccdc178	UTSW	18	21811561	missense	probably benign	0.00
R3177:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3277:Ccdc178	UTSW	18	22067652	missense	possibly damaging	0.95
R3903:Ccdc178	UTSW	18	22023095	missense	possibly damaging	0.79
R4184:Ccdc178	UTSW	18	22024784	missense	probably damaging	1.00
R4258:Ccdc178	UTSW	18	22017335	splice site	probably null
R4319:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4321:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4323:Ccdc178	UTSW	18	22033543	nonsense	probably null
R4509:Ccdc178	UTSW	18	22067392	missense	possibly damaging	0.94
R4672:Ccdc178	UTSW	18	22150444	nonsense	probably null
R5078:Ccdc178	UTSW	18	22067628	critical splice donor site	probably null
R5099:Ccdc178	UTSW	18	22105591	missense	probably benign
R5679:Ccdc178	UTSW	18	22067429	missense	probably benign
R5683:Ccdc178	UTSW	18	22130122	missense	probably benign	0.00
R6120:Ccdc178	UTSW	18	22097728	missense	probably benign	0.00
R6318:Ccdc178	UTSW	18	22120534	missense	possibly damaging	0.90
R6717:Ccdc178	UTSW	18	22020889	missense	probably damaging	0.98
R6853:Ccdc178	UTSW	18	22109876	missense	probably benign	0.00
R6980:Ccdc178	UTSW	18	22105563	missense	probably benign
R7019:Ccdc178	UTSW	18	22150438	missense	probably benign	0.00
R7246:Ccdc178	UTSW	18	22109754	missense	possibly damaging	0.92
R7322:Ccdc178	UTSW	18	22105549	missense	probably benign	0.15
R7340:Ccdc178	UTSW	18	22017461	missense	probably benign	0.17
R7371:Ccdc178	UTSW	18	22130138	missense	probably benign	0.01
R8003:Ccdc178	UTSW	18	21844887	critical splice donor site	probably null
R8371:Ccdc178	UTSW	18	21811504	missense	possibly damaging	0.90
R8670:Ccdc178	UTSW	18	22097662	missense	possibly damaging	0.89
R8695:Ccdc178	UTSW	18	22024752	missense	probably benign	0.02
R8885:Ccdc178	UTSW	18	22067664	missense	probably damaging	0.98
R9504:Ccdc178	UTSW	18	22105651	missense	possibly damaging	0.89
R9518:Ccdc178	UTSW	18	22145459	missense	possibly damaging	0.92
X0063:Ccdc178	UTSW	18	21844912	missense	probably benign	0.12
Z1177:Ccdc178	UTSW	18	22109731	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGCTGGAGGGGTTTATTACAGATCACTT -3'
(R):5'- ACTCTGTTAGTCAGTGCTCACTATGGAA -3'

Sequencing Primer
(F):5'- ACAGATCACTTATTAGGACGCTAC -3'
(R):5'- GTCAGTGCTCACTATGGAAACTAC -3'

Posted On

2014-07-31