Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Ccdc148'

187977

Institutional Source

Beutler Lab

Gene Symbol

Ccdc148

Ensembl Gene

ENSMUSG00000036641

Gene Name

coiled-coil domain containing 148

Synonyms

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58821070-59160683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58980554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 317 (D317G)

Ref Sequence

ENSEMBL: ENSMUSP00000153944 (fasta)

Gene Model

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

AlphaFold

Q6P5U8

Predicted Effect

probably benign
Transcript: ENSMUST00000077687
AA Change: D245G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: D245G

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: D317G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411 (GRCm38)		probably null	Het
Adam6b	T	C	12: 113,491,044 (GRCm38)	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485 (GRCm38)		probably null	Het
Anapc2	G	A	2: 25,272,639 (GRCm38)	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899 (GRCm38)	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211 (GRCm38)	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157 (GRCm38)	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648 (GRCm38)	T941A	probably damaging	Het
Barhl1	C	T	2: 28,915,411 (GRCm38)	R90Q	possibly damaging	Het
Calr3	T	C	8: 72,431,458 (GRCm38)	D91G	probably damaging	Het
Cnn3	C	T	3: 121,457,169 (GRCm38)	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683 (GRCm38)	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560 (GRCm38)	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323 (GRCm38)	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540 (GRCm38)	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686 (GRCm38)	S88T	probably benign	Het
Eno3	T	C	11: 70,658,666 (GRCm38)		probably null	Het
Erbb3	C	A	10: 128,571,204 (GRCm38)	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178 (GRCm38)	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402 (GRCm38)	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507 (GRCm38)	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055 (GRCm38)	L360*	probably null	Het
Gldc	A	T	19: 30,143,453 (GRCm38)	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051 (GRCm38)	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820 (GRCm38)	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559 (GRCm38)	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443 (GRCm38)	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163 (GRCm38)	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288 (GRCm38)	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403 (GRCm38)	C406S	probably benign	Het
Klhl28	A	T	12: 64,951,819 (GRCm38)	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,482,453 (GRCm38)	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185 (GRCm38)	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710 (GRCm38)	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774 (GRCm38)	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,741,026 (GRCm38)	E144K	probably damaging	Het
Mal	T	C	2: 127,635,044 (GRCm38)	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655 (GRCm38)	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218 (GRCm38)	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149 (GRCm38)	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948 (GRCm38)	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831 (GRCm38)	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097 (GRCm38)	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637 (GRCm38)	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181 (GRCm38)	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525 (GRCm38)	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191 (GRCm38)	F205I	probably damaging	Het
Samd4b	C	T	7: 28,414,010 (GRCm38)	G177R	probably damaging	Het
Sema4a	A	T	3: 88,454,766 (GRCm38)	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074 (GRCm38)	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Syt14	T	C	1: 192,897,482 (GRCm38)	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409 (GRCm38)	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511 (GRCm38)	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236 (GRCm38)	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,639,050 (GRCm38)		probably null	Het
Usp49	C	A	17: 47,673,410 (GRCm38)	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952 (GRCm38)	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834 (GRCm38)	K394N	probably damaging	Het

Other mutations in Ccdc148

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Ccdc148	APN	2	58,829,799 (GRCm38)	missense	probably benign	0.00
IGL02056:Ccdc148	APN	2	59,004,069 (GRCm38)	splice site	probably benign
IGL02470:Ccdc148	APN	2	59,001,899 (GRCm38)	missense	probably damaging	0.96
PIT4585001:Ccdc148	UTSW	2	58,982,976 (GRCm38)	missense	probably benign	0.01
R0068:Ccdc148	UTSW	2	58,827,617 (GRCm38)	missense	probably benign
R0068:Ccdc148	UTSW	2	58,827,617 (GRCm38)	missense	probably benign
R0348:Ccdc148	UTSW	2	59,004,072 (GRCm38)	splice site	probably null
R1464:Ccdc148	UTSW	2	58,934,443 (GRCm38)	missense	probably damaging	1.00
R1464:Ccdc148	UTSW	2	58,934,443 (GRCm38)	missense	probably damaging	1.00
R1464:Ccdc148	UTSW	2	58,906,362 (GRCm38)	nonsense	probably null
R1464:Ccdc148	UTSW	2	58,906,362 (GRCm38)	nonsense	probably null
R1677:Ccdc148	UTSW	2	59,002,164 (GRCm38)	missense	probably damaging	1.00
R1832:Ccdc148	UTSW	2	59,001,899 (GRCm38)	missense	probably damaging	0.96
R1918:Ccdc148	UTSW	2	58,982,899 (GRCm38)	missense	probably damaging	1.00
R2114:Ccdc148	UTSW	2	59,002,116 (GRCm38)	missense	probably damaging	1.00
R2115:Ccdc148	UTSW	2	59,002,116 (GRCm38)	missense	probably damaging	1.00
R4657:Ccdc148	UTSW	2	59,001,888 (GRCm38)	missense	probably benign	0.04
R4921:Ccdc148	UTSW	2	58,829,802 (GRCm38)	missense	probably damaging	1.00
R5022:Ccdc148	UTSW	2	58,827,632 (GRCm38)	missense	probably damaging	1.00
R5809:Ccdc148	UTSW	2	58,823,645 (GRCm38)	missense	probably damaging	1.00
R6164:Ccdc148	UTSW	2	58,823,633 (GRCm38)	missense	probably damaging	1.00
R6952:Ccdc148	UTSW	2	58,823,645 (GRCm38)	missense	probably damaging	1.00
R6987:Ccdc148	UTSW	2	58,982,914 (GRCm38)	missense	probably damaging	1.00
R7121:Ccdc148	UTSW	2	58,827,567 (GRCm38)	missense	probably damaging	1.00
R7452:Ccdc148	UTSW	2	58,827,584 (GRCm38)	missense	probably damaging	1.00
R7493:Ccdc148	UTSW	2	59,009,148 (GRCm38)	missense	probably damaging	1.00
R7574:Ccdc148	UTSW	2	58,823,633 (GRCm38)	missense	probably damaging	1.00
R7666:Ccdc148	UTSW	2	58,934,500 (GRCm38)	missense	probably damaging	0.99
R7763:Ccdc148	UTSW	2	58,823,636 (GRCm38)	missense	probably benign
R8045:Ccdc148	UTSW	2	59,002,071 (GRCm38)	critical splice donor site	probably null
R8865:Ccdc148	UTSW	2	58,829,820 (GRCm38)	missense	possibly damaging	0.86
R8932:Ccdc148	UTSW	2	59,004,042 (GRCm38)	missense	probably benign	0.40
R9597:Ccdc148	UTSW	2	59,003,385 (GRCm38)	missense	probably benign	0.08
X0062:Ccdc148	UTSW	2	59,003,448 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCACATAGTTCCTGTTGCCGTC -3'
(R):5'- CTGCTTCCATCCTACCTGAGCAAAC -3'

Sequencing Primer
(F):5'- GCCGTCTCCTGTCCTTGG -3'
(R):5'- AGTCCCTGAACAGAGCTTGTG -3'

Posted On

2014-05-09