Mutagenetix > Incidental Mutation

Incidental Mutation 'R9597:Ccdc148'

723319

Institutional Source

Beutler Lab

Gene Symbol

Ccdc148

Ensembl Gene

ENSMUSG00000036641

Gene Name

coiled-coil domain containing 148

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R9597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58711082-58991027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58893397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 78 (Y78N)

Ref Sequence

ENSEMBL: ENSMUSP00000076871 (fasta)

Gene Model

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

AlphaFold

Q6P5U8

Predicted Effect

probably benign
Transcript: ENSMUST00000077687
AA Change: Y78N

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: Y78N

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 benign
Transcript: ENSMUST00000226455
AA Change: Y150N

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,813 (GRCm39)	E952G	possibly damaging	Het
Abhd12	T	C	2: 150,688,198 (GRCm39)	I170V	probably benign	Het
Ankmy1	A	G	1: 92,804,773 (GRCm39)	V840A		Het
Arhgap18	T	A	10: 26,788,655 (GRCm39)	V589D	probably damaging	Het
Armc7	A	G	11: 115,379,712 (GRCm39)	T137A	probably benign	Het
Bcl9	A	T	3: 97,117,323 (GRCm39)	I457K	probably benign	Het
Ccdc24	A	G	4: 117,729,348 (GRCm39)	V43A	probably damaging	Het
Cep68	G	A	11: 20,188,506 (GRCm39)	T633I	probably benign	Het
Cfap157	T	C	2: 32,669,753 (GRCm39)	I277V	probably benign	Het
Clec4a2	C	A	6: 123,116,291 (GRCm39)	A152E	probably benign	Het
Crocc2	G	T	1: 93,118,217 (GRCm39)	C380F	probably benign	Het
Cyp2ab1	A	T	16: 20,135,340 (GRCm39)	M54K	probably benign	Het
Fbn1	C	A	2: 125,187,906 (GRCm39)	R1541L	probably benign	Het
Fem1c	G	T	18: 46,638,362 (GRCm39)	L547I	probably damaging	Het
Firrm	A	T	1: 163,804,340 (GRCm39)	L331Q	probably null	Het
Fras1	A	G	5: 96,888,551 (GRCm39)	D2699G	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Kcnn2	T	C	18: 45,816,149 (GRCm39)	V460A	probably benign	Het
Krt81	T	C	15: 101,358,919 (GRCm39)	I278V	probably benign	Het
Lrp2	T	A	2: 69,260,703 (GRCm39)	E4509D	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Myh2	G	A	11: 67,064,302 (GRCm39)	D86N	possibly damaging	Het
Naip6	T	C	13: 100,436,646 (GRCm39)	I626V	probably benign	Het
Neto1	T	C	18: 86,422,821 (GRCm39)	S93P	possibly damaging	Het
Obscn	G	T	11: 59,027,009 (GRCm39)	R65S	probably benign	Het
Or52e8	A	G	7: 104,624,413 (GRCm39)	F264L	probably benign	Het
Pcdh7	A	G	5: 57,877,197 (GRCm39)	T251A	possibly damaging	Het
Pramel15	A	T	4: 144,103,526 (GRCm39)	V200E	probably damaging	Het
Prdm14	T	C	1: 13,192,657 (GRCm39)	K361E	possibly damaging	Het
Rgs2	A	G	1: 143,877,826 (GRCm39)	F125L	probably damaging	Het
Scd2	C	A	19: 44,288,246 (GRCm39)	Q213K	probably damaging	Het
Slc23a2	C	A	2: 131,904,098 (GRCm39)	R454L	probably damaging	Het
Smg1	T	C	7: 117,812,270 (GRCm39)	D31G	unknown	Het
Spata7	T	A	12: 98,600,559 (GRCm39)	N57K	probably damaging	Het
Spef2	T	C	15: 9,599,897 (GRCm39)	M1983V	unknown	Het
Srcap	G	T	7: 127,121,219 (GRCm39)	R184L	possibly damaging	Het
Tafa4	A	G	6: 96,991,429 (GRCm39)	W7R	probably benign	Het
Tbpl2	A	G	2: 23,977,296 (GRCm39)	S241P	probably damaging	Het
Tcaim	A	G	9: 122,637,830 (GRCm39)		probably null	Het
Tep1	G	T	14: 51,100,465 (GRCm39)	A351E	probably damaging	Het
Tiparp	A	G	3: 65,438,701 (GRCm39)	T6A	probably benign	Het
Tmem62	T	C	2: 120,829,567 (GRCm39)	F437L	probably benign	Het
Tpp1	A	T	7: 105,396,714 (GRCm39)	H434Q	probably benign	Het
Vmn2r17	A	G	5: 109,575,669 (GRCm39)	Y180C	probably damaging	Het
Vmn2r52	A	T	7: 9,904,719 (GRCm39)	Y373*	probably null	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het

Other mutations in Ccdc148

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Ccdc148	APN	2	58,719,811 (GRCm39)	missense	probably benign	0.00
IGL02056:Ccdc148	APN	2	58,894,081 (GRCm39)	splice site	probably benign
IGL02470:Ccdc148	APN	2	58,891,911 (GRCm39)	missense	probably damaging	0.96
PIT4585001:Ccdc148	UTSW	2	58,872,988 (GRCm39)	missense	probably benign	0.01
R0068:Ccdc148	UTSW	2	58,717,629 (GRCm39)	missense	probably benign
R0068:Ccdc148	UTSW	2	58,717,629 (GRCm39)	missense	probably benign
R0348:Ccdc148	UTSW	2	58,894,084 (GRCm39)	splice site	probably null
R1464:Ccdc148	UTSW	2	58,824,455 (GRCm39)	missense	probably damaging	1.00
R1464:Ccdc148	UTSW	2	58,824,455 (GRCm39)	missense	probably damaging	1.00
R1464:Ccdc148	UTSW	2	58,796,374 (GRCm39)	nonsense	probably null
R1464:Ccdc148	UTSW	2	58,796,374 (GRCm39)	nonsense	probably null
R1675:Ccdc148	UTSW	2	58,870,566 (GRCm39)	missense	probably damaging	0.96
R1677:Ccdc148	UTSW	2	58,892,176 (GRCm39)	missense	probably damaging	1.00
R1832:Ccdc148	UTSW	2	58,891,911 (GRCm39)	missense	probably damaging	0.96
R1918:Ccdc148	UTSW	2	58,872,911 (GRCm39)	missense	probably damaging	1.00
R2114:Ccdc148	UTSW	2	58,892,128 (GRCm39)	missense	probably damaging	1.00
R2115:Ccdc148	UTSW	2	58,892,128 (GRCm39)	missense	probably damaging	1.00
R4657:Ccdc148	UTSW	2	58,891,900 (GRCm39)	missense	probably benign	0.04
R4921:Ccdc148	UTSW	2	58,719,814 (GRCm39)	missense	probably damaging	1.00
R5022:Ccdc148	UTSW	2	58,717,644 (GRCm39)	missense	probably damaging	1.00
R5809:Ccdc148	UTSW	2	58,713,657 (GRCm39)	missense	probably damaging	1.00
R6164:Ccdc148	UTSW	2	58,713,645 (GRCm39)	missense	probably damaging	1.00
R6952:Ccdc148	UTSW	2	58,713,657 (GRCm39)	missense	probably damaging	1.00
R6987:Ccdc148	UTSW	2	58,872,926 (GRCm39)	missense	probably damaging	1.00
R7121:Ccdc148	UTSW	2	58,717,579 (GRCm39)	missense	probably damaging	1.00
R7452:Ccdc148	UTSW	2	58,717,596 (GRCm39)	missense	probably damaging	1.00
R7493:Ccdc148	UTSW	2	58,899,160 (GRCm39)	missense	probably damaging	1.00
R7574:Ccdc148	UTSW	2	58,713,645 (GRCm39)	missense	probably damaging	1.00
R7666:Ccdc148	UTSW	2	58,824,512 (GRCm39)	missense	probably damaging	0.99
R7763:Ccdc148	UTSW	2	58,713,648 (GRCm39)	missense	probably benign
R8045:Ccdc148	UTSW	2	58,892,083 (GRCm39)	critical splice donor site	probably null
R8865:Ccdc148	UTSW	2	58,719,832 (GRCm39)	missense	possibly damaging	0.86
R8932:Ccdc148	UTSW	2	58,894,054 (GRCm39)	missense	probably benign	0.40
X0062:Ccdc148	UTSW	2	58,893,460 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGCAGGTGTTTGCTTCAAC -3'
(R):5'- AACGATGAAAGTTGCCCCTCC -3'

Sequencing Primer
(F):5'- CGTCAGATCTTGGAGTTACAGAG -3'
(R):5'- ATGCTCTTCTTGTATTACCTGTCTGG -3'

Posted On

2022-08-09