Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4585001:Ccdc148'

556585

Institutional Source

Beutler Lab

Gene Symbol

Ccdc148

Ensembl Gene

ENSMUSG00000036641

Gene Name

coiled-coil domain containing 148

Synonyms

Accession Numbers

Essential gene?

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

Stock #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58711082-58991027 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58872988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 202 (T202S)

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: T202S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: T202S

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: T274S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,199,117 (GRCm39)	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,531,342 (GRCm39)	D560E	probably damaging	Het
Cdc42bpb	T	C	12: 111,271,412 (GRCm39)	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,390,285 (GRCm39)	N156K	probably damaging	Het
Cox18	G	A	5: 90,365,434 (GRCm39)	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,783,394 (GRCm39)	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,491,996 (GRCm39)	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,056,630 (GRCm39)	T339A	probably benign	Het
Eif5a	T	C	11: 69,808,896 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,386,940 (GRCm39)		probably null	Het
Esco1	A	T	18: 10,594,355 (GRCm39)	C310*	probably null	Het
Fam222a	A	G	5: 114,749,101 (GRCm39)	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,496,573 (GRCm39)	L339P	probably damaging	Het
Gfral	A	T	9: 76,104,576 (GRCm39)	N145K	probably damaging	Het
Gga1	T	A	15: 78,777,990 (GRCm39)	N618K	probably benign	Het
Gpatch3	T	A	4: 133,310,397 (GRCm39)	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,666,747 (GRCm39)	R346*	probably null	Het
Gsg1	T	C	6: 135,214,558 (GRCm39)	E317G	probably benign	Het
Gsk3b	A	G	16: 38,004,816 (GRCm39)	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,184,789 (GRCm39)	D94E	possibly damaging	Het
Kash5	C	T	7: 44,849,695 (GRCm39)	G76D	probably benign	Het
Klhdc9	T	A	1: 171,187,386 (GRCm39)	H204L	possibly damaging	Het
Klhl24	A	G	16: 19,925,638 (GRCm39)	I55M	probably benign	Het
Kmt2c	T	C	5: 25,520,104 (GRCm39)	D2002G	probably benign	Het
Lama4	A	G	10: 38,950,742 (GRCm39)	N1015S	probably damaging	Het
Lpp	T	C	16: 24,580,697 (GRCm39)	C263R	probably benign	Het
Lrp1b	T	C	2: 41,159,216 (GRCm39)	I1689V		Het
Mipep	C	A	14: 61,022,284 (GRCm39)	Q50K	probably benign	Het
Mx1	T	C	16: 97,257,454 (GRCm39)	D101G	probably benign	Het
Nabp2	C	G	10: 128,244,676 (GRCm39)	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,671,104 (GRCm39)	I115V	possibly damaging	Het
Nup93	A	T	8: 94,970,355 (GRCm39)	T85S	probably benign	Het
Oit3	T	A	10: 59,266,835 (GRCm39)	I224F	possibly damaging	Het
Parp14	T	C	16: 35,678,975 (GRCm39)	K331R	probably benign	Het
Pls1	T	A	9: 95,643,443 (GRCm39)	T519S	probably benign	Het
Rcn3	A	G	7: 44,736,118 (GRCm39)	F197L	probably benign	Het
Rnf213	C	T	11: 119,349,218 (GRCm39)	T3773I		Het
Rprd1b	A	T	2: 157,889,877 (GRCm39)	I153L	probably benign	Het
Scel	A	G	14: 103,829,804 (GRCm39)	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,794,276 (GRCm39)	S548L	possibly damaging	Het
Sim1	T	A	10: 50,860,284 (GRCm39)	Y715*	probably null	Het
Slc18a2	A	T	19: 59,282,293 (GRCm39)	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,722,365 (GRCm39)	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,055,246 (GRCm39)	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623 (GRCm39)	T396A	probably benign	Het
Tas2r104	T	C	6: 131,662,521 (GRCm39)	T63A	possibly damaging	Het
Tasor2	G	A	13: 3,624,979 (GRCm39)	A1657V	possibly damaging	Het
Top2a	C	T	11: 98,892,199 (GRCm39)	A1088T	probably benign	Het
Ucp1	T	C	8: 84,020,577 (GRCm39)	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298 (GRCm39)	D41E	probably benign	Het
Usp10	T	G	8: 120,681,631 (GRCm39)	V696G	probably benign	Het
Xylt2	C	T	11: 94,557,066 (GRCm39)	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,373,820 (GRCm39)	N41K	probably damaging	Het
Zfp109	T	A	7: 23,928,779 (GRCm39)	D218V	probably benign	Het
Zfp420	G	A	7: 29,575,430 (GRCm39)	R550Q	probably benign	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
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
R9597:Ccdc148	UTSW	2	58,893,397 (GRCm39)	missense	probably benign	0.08
X0062:Ccdc148	UTSW	2	58,893,460 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTGGACCTCTAAACACAGCAATTC -3'
(R):5'- GACAGGTGGTGTTAGCTCAC -3'

Sequencing Primer
(F):5'- CAGCAATTCACAGGCATATAGG -3'
(R):5'- GGCATCTTGAAACCAGCTTG -3'

Posted On

2019-06-07