Mutagenetix > Incidental Mutation

Incidental Mutation 'R6952:Ccdc148'

543271

Institutional Source

Beutler Lab

Gene Symbol

Ccdc148

Ensembl Gene

ENSMUSG00000036641

Gene Name

coiled-coil domain containing 148

Synonyms

MMRRC Submission

045064-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58821070-59160683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58823645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 498 (H498R)

Ref Sequence

ENSEMBL: ENSMUSP00000076871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077687] [ENSMUST00000226455]

AlphaFold

Q6P5U8

Predicted Effect

probably damaging
Transcript: ENSMUST00000077687
AA Change: H498R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: H498R

Domain	Start	End	E-Value	Type
coiled coil region	173	195	N/A	INTRINSIC
coiled coil region	289	353	N/A	INTRINSIC
low complexity region	369	382	N/A	INTRINSIC
coiled coil region	401	438	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226455
AA Change: H570R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	G	16: 20,549,734		probably null	Het
Acap1	C	A	11: 69,885,517	V219L	probably benign	Het
Arpp21	G	A	9: 112,126,482	P530S	probably damaging	Het
Atp6v1b1	T	C	6: 83,754,810	V224A	probably damaging	Het
Brd3	T	C	2: 27,454,359	D453G	probably damaging	Het
Btbd10	A	T	7: 113,351,943		probably null	Het
Cga	A	T	4: 34,905,171	Y65F	possibly damaging	Het
Chd7	A	T	4: 8,856,797	H136L	probably damaging	Het
Chit1	T	C	1: 134,143,284	Y34H	probably damaging	Het
Dapk2	C	G	9: 66,254,622	R271G	probably benign	Het
Dnhd1	T	G	7: 105,713,688	V3819G	probably damaging	Het
Dsg3	A	T	18: 20,525,159	I276F	possibly damaging	Het
Dusp1	T	C	17: 26,507,603	S162G	probably benign	Het
Fam189a2	A	T	19: 23,984,718	M307K	possibly damaging	Het
Gga2	C	A	7: 121,998,888	A328S	probably benign	Het
Gpr183	A	G	14: 121,954,485	I208T	possibly damaging	Het
Haspin	T	C	11: 73,136,145	D706G	possibly damaging	Het
Hdac5	T	C	11: 102,204,960	I338V	probably benign	Het
Ik	C	T	18: 36,753,560	R362C	probably damaging	Het
Kdm4c	T	G	4: 74,357,350	C754W	probably damaging	Het
Lexm	C	G	4: 106,610,399		probably null	Het
Limk1	T	A	5: 134,670,478	I142F	possibly damaging	Het
Mccc2	T	C	13: 99,967,726	E305G	probably benign	Het
Mdm1	A	G	10: 118,168,057	D639G	probably damaging	Het
Mefv	T	G	16: 3,710,880	T566P	probably damaging	Het
Mep1b	G	A	18: 21,088,670	V226I	probably benign	Het
Mgmt	T	C	7: 136,951,335	M19T	probably benign	Het
Mrgpra6	A	T	7: 47,185,945	S243T	probably benign	Het
Myh7	C	T	14: 54,991,740	R169Q	probably damaging	Het
Myo1b	T	C	1: 51,762,509	I917V	probably damaging	Het
Olfr1253	A	T	2: 89,752,627	M67K	possibly damaging	Het
Phlpp1	T	C	1: 106,172,479	L159P	probably benign	Het
Plekhh3	T	C	11: 101,165,656	E371G	probably damaging	Het
Rps6ka2	C	A	17: 7,227,978	D21E	probably benign	Het
Slc47a1	T	A	11: 61,344,454	M518L	probably benign	Het
Slitrk6	T	C	14: 110,750,542	T578A	probably benign	Het
Syne2	A	T	12: 75,927,431	K1133N	possibly damaging	Het
Taco1	T	C	11: 106,073,116	S234P	probably benign	Het
Trpv4	G	A	5: 114,633,202	S422F	probably damaging	Het
Tvp23b	T	A	11: 62,885,126	D97E	possibly damaging	Het
Vmn1r37	A	T	6: 66,731,539	I13L	probably benign	Het
Vrk2	T	A	11: 26,535,597	K130N	probably damaging	Het
Wdfy4	C	T	14: 32,959,966	R3016Q	probably damaging	Het
Zfp383	T	C	7: 29,914,955	S212P	probably benign	Het

Other mutations in Ccdc148

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Ccdc148	APN	2	58829799	missense	probably benign	0.00
IGL02056:Ccdc148	APN	2	59004069	splice site	probably benign
IGL02470:Ccdc148	APN	2	59001899	missense	probably damaging	0.96
PIT4585001:Ccdc148	UTSW	2	58982976	missense	probably benign	0.01
R0068:Ccdc148	UTSW	2	58827617	missense	probably benign
R0068:Ccdc148	UTSW	2	58827617	missense	probably benign
R0348:Ccdc148	UTSW	2	59004072	splice site	probably null
R1464:Ccdc148	UTSW	2	58906362	nonsense	probably null
R1464:Ccdc148	UTSW	2	58934443	missense	probably damaging	1.00
R1464:Ccdc148	UTSW	2	58906362	nonsense	probably null
R1464:Ccdc148	UTSW	2	58934443	missense	probably damaging	1.00
R1675:Ccdc148	UTSW	2	58980554	missense	probably damaging	0.96
R1677:Ccdc148	UTSW	2	59002164	missense	probably damaging	1.00
R1832:Ccdc148	UTSW	2	59001899	missense	probably damaging	0.96
R1918:Ccdc148	UTSW	2	58982899	missense	probably damaging	1.00
R2114:Ccdc148	UTSW	2	59002116	missense	probably damaging	1.00
R2115:Ccdc148	UTSW	2	59002116	missense	probably damaging	1.00
R4657:Ccdc148	UTSW	2	59001888	missense	probably benign	0.04
R4921:Ccdc148	UTSW	2	58829802	missense	probably damaging	1.00
R5022:Ccdc148	UTSW	2	58827632	missense	probably damaging	1.00
R5809:Ccdc148	UTSW	2	58823645	missense	probably damaging	1.00
R6164:Ccdc148	UTSW	2	58823633	missense	probably damaging	1.00
R6987:Ccdc148	UTSW	2	58982914	missense	probably damaging	1.00
R7121:Ccdc148	UTSW	2	58827567	missense	probably damaging	1.00
R7452:Ccdc148	UTSW	2	58827584	missense	probably damaging	1.00
R7493:Ccdc148	UTSW	2	59009148	missense	probably damaging	1.00
R7574:Ccdc148	UTSW	2	58823633	missense	probably damaging	1.00
R7666:Ccdc148	UTSW	2	58934500	missense	probably damaging	0.99
R7763:Ccdc148	UTSW	2	58823636	missense	probably benign
R8045:Ccdc148	UTSW	2	59002071	critical splice donor site	probably null
R8865:Ccdc148	UTSW	2	58829820	missense	possibly damaging	0.86
R8932:Ccdc148	UTSW	2	59004042	missense	probably benign	0.40
R9597:Ccdc148	UTSW	2	59003385	missense	probably benign	0.08
X0062:Ccdc148	UTSW	2	59003448	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGCGAACAAAACTTTGAAGC -3'
(R):5'- ATGCGACTTGGGAAACAAAC -3'

Sequencing Primer
(F):5'- ATAAATGCTGTGATTTCTCTGTGCAG -3'
(R):5'- CGACTTGGGAAACAAACCGGAAG -3'

Posted On

2018-11-28