Mutagenetix > Incidental Mutation

Incidental Mutation 'R7493:Ccdc148'

580895

Institutional Source

Beutler Lab

Gene Symbol

Ccdc148

Ensembl Gene

ENSMUSG00000036641

Gene Name

coiled-coil domain containing 148

Synonyms

MMRRC Submission

045567-MU

Accession Numbers

Essential gene?

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

Stock #

R7493 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58821070-59160683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59009148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 71 (E71A)

Ref Sequence

ENSEMBL: ENSMUSP00000153944 (fasta)

Gene Model

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

AlphaFold

Q6P5U8

Predicted Effect

probably benign
Transcript: ENSMUST00000077687

SMART Domains

Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641

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: E71A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,015,531	D122G	probably benign	Het
3110062M04Rik	A	T	6: 34,874,658	L114Q	probably damaging	Het
3425401B19Rik	A	G	14: 32,663,300	L236P	possibly damaging	Het
4932415D10Rik	A	T	10: 82,288,964	Y2737*	probably null	Het
4932415D10Rik	T	C	10: 82,316,430	Y34C	unknown	Het
9030624J02Rik	C	T	7: 118,794,577		probably null	Het
Abca7	T	A	10: 80,002,062	D488E	probably damaging	Het
Adora2a	A	G	10: 75,333,589	K296E	possibly damaging	Het
Atp13a4	T	A	16: 29,471,956	E225V		Het
Bpifb2	A	G	2: 153,889,477	M258V	possibly damaging	Het
Brd2	G	A	17: 34,122,257		probably benign	Het
Btaf1	G	T	19: 37,009,605	V1700F	probably damaging	Het
C2cd3	A	G	7: 100,427,226	I797V		Het
Ccdc18	T	A	5: 108,206,617	L1074*	probably null	Het
Ccne2	A	G	4: 11,198,772	D215G	probably damaging	Het
Cers6	T	A	2: 68,861,807		probably null	Het
Copz1	A	G	15: 103,296,544	E110G	probably damaging	Het
Cped1	A	T	6: 22,215,513	D682V	probably damaging	Het
Crb1	A	T	1: 139,237,030	C1180S	probably damaging	Het
Echdc3	A	T	2: 6,189,557	L229Q	probably damaging	Het
Etfb	C	T	7: 43,454,576	P145L	probably damaging	Het
Exoc3l2	G	T	7: 19,469,888	R135L		Het
Fam83a	G	A	15: 57,986,173	A38T	probably damaging	Het
G6pc2	T	C	2: 69,223,000	Y133H	probably benign	Het
Gfy	T	C	7: 45,178,094	I193V	probably benign	Het
Ggnbp2	T	C	11: 84,854,073	T208A	probably benign	Het
Gigyf1	T	A	5: 137,525,533	M1019K	probably damaging	Het
Gm15922	T	C	7: 3,739,024	E119G	not run	Het
Gm45783	T	C	7: 7,370,600	D61G	probably damaging	Het
Golga5	T	C	12: 102,484,576		probably null	Het
Ighe	A	G	12: 113,271,403	V379A		Het
Itpr3	C	A	17: 27,094,800	H573Q	probably benign	Het
Klhl2	A	G	8: 64,749,775	L463P	probably damaging	Het
Large1	T	G	8: 72,823,715	M619L	probably benign	Het
Limd1	T	A	9: 123,479,683	V149E	probably benign	Het
Lyz2	T	C	10: 117,282,239	K2E	probably damaging	Het
Man2c1	T	A	9: 57,141,128	S858T	probably damaging	Het
Nt5dc1	A	T	10: 34,304,936	N439K	probably benign	Het
Olfr1173	T	C	2: 88,275,101		probably benign	Het
Olfr1178	T	C	2: 88,391,880	V211A	possibly damaging	Het
Olfr1239	A	G	2: 89,417,801	I204T	probably benign	Het
Olfr566	A	T	7: 102,857,071	Y70*	probably null	Het
Olfr733	G	A	14: 50,298,824	L162F	probably benign	Het
Olfr845	A	C	9: 19,338,813	M118L	probably damaging	Het
Otogl	T	C	10: 107,886,982	N296S	probably benign	Het
Patj	A	G	4: 98,495,061	N789D	probably benign	Het
Pcsk6	A	G	7: 66,043,566	D851G	possibly damaging	Het
Peg3	T	C	7: 6,709,724	H833R	probably damaging	Het
Plekha5	A	G	6: 140,580,435	D933G	probably benign	Het
Pnma1	G	A	12: 84,147,129	R267C	probably damaging	Het
Ppp3cb	T	A	14: 20,508,551	H481L	probably benign	Het
Prl8a8	T	C	13: 27,511,435		probably null	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,529,539		probably benign	Het
Ptpro	C	A	6: 137,382,649	L406I	probably benign	Het
Rbpj	T	C	5: 53,600,934	S18P	probably benign	Het
Rhbg	C	T	3: 88,247,579	V173M	probably damaging	Het
Rps6kc1	A	G	1: 190,800,057	S583P	probably benign	Het
Ryr1	T	C	7: 29,095,205	S1217G	probably benign	Het
S1pr1	A	T	3: 115,712,273	I224N	probably damaging	Het
Sall1	C	T	8: 89,031,053	D808N	probably benign	Het
Shoc2	T	C	19: 53,988,036	V119A	probably benign	Het
Ssh2	A	T	11: 77,437,716	E369D	probably benign	Het
Stx1b	C	T	7: 127,807,359	V273M	possibly damaging	Het
Syne2	A	G	12: 75,965,880	H2615R	probably benign	Het
Tmc8	T	C	11: 117,784,932	I225T	probably benign	Het
Tmem126b	A	G	7: 90,472,646	I52T	probably benign	Het
Top2b	G	A	14: 16,416,605	D1122N	probably benign	Het
Trav13-2	T	A	14: 53,634,906	S7T	possibly damaging	Het
Ttc1	A	T	11: 43,745,362	L18Q	probably damaging	Het
Ttn	A	T	2: 76,737,209	I27780N	probably damaging	Het
Ubfd1	T	C	7: 122,067,412	S44P	probably benign	Het
Vmn1r89	A	G	7: 13,219,705	K123E	probably damaging	Het
Vmn2r62	A	C	7: 42,787,892	F389L	possibly damaging	Het
Zdhhc11	T	A	13: 73,973,607	M79K	possibly damaging	Het
Zfp202	G	T	9: 40,207,344	V18F	possibly damaging	Het
Zfp39	A	G	11: 58,891,043	F298L	possibly damaging	Het
Znrf1	G	A	8: 111,537,439	G100D	probably damaging	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
R6952:Ccdc148	UTSW	2	58823645	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
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'- CTGATTGTGTGGTTTAACAGAGATC -3'
(R):5'- ACAGGAAACCTTTCTTTTGTGG -3'

Sequencing Primer
(F):5'- ACAGAGATCGGTCATTATAGATGTG -3'
(R):5'- GGAAACCTTTCTTTTGTGGAAATAC -3'

Posted On

2019-10-17