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: 0.065) question?

Stock #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58821070-59160683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58982976 bp (GRCm38)

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: 172,357,197	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,326,344	D560E	probably damaging	Het
Ccdc155	C	T	7: 45,200,271	G76D	probably benign	Het
Cdc42bpb	T	C	12: 111,304,978	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,462,555	N156K	probably damaging	Het
Cox18	G	A	5: 90,217,575	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,941,474	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,764,685	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,006,630	T339A	probably benign	Het
Eif5a	T	C	11: 69,918,070		probably benign	Het
Epha3	A	G	16: 63,566,577		probably null	Het
Esco1	A	T	18: 10,594,355	C310*	probably null	Het
Fam208b	G	A	13: 3,574,979	A1657V	possibly damaging	Het
Fam222a	A	G	5: 114,611,040	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,605,747	L339P	probably damaging	Het
Gfral	A	T	9: 76,197,294	N145K	probably damaging	Het
Gga1	T	A	15: 78,893,790	N618K	probably benign	Het
Gpatch3	T	A	4: 133,583,086	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,509,403	R346*	probably null	Het
Gsg1	T	C	6: 135,237,560	E317G	probably benign	Het
Gsk3b	A	G	16: 38,184,454	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,348,955	D94E	possibly damaging	Het
Klhdc9	T	A	1: 171,359,818	H204L	possibly damaging	Het
Klhl24	A	G	16: 20,106,888	I55M	probably benign	Het
Kmt2c	T	C	5: 25,315,106	D2002G	probably benign	Het
Lama4	A	G	10: 39,074,746	N1015S	probably damaging	Het
Lpp	T	C	16: 24,761,947	C263R	probably benign	Het
Lrp1b	T	C	2: 41,269,204	I1689V		Het
Mipep	C	A	14: 60,784,835	Q50K	probably benign	Het
Mx1	T	C	16: 97,456,254	D101G	probably benign	Het
Nabp2	C	G	10: 128,408,807	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,842,036	I115V	possibly damaging	Het
Nup93	A	T	8: 94,243,727	T85S	probably benign	Het
Oit3	T	A	10: 59,431,013	I224F	possibly damaging	Het
Parp14	T	C	16: 35,858,605	K331R	probably benign	Het
Pls1	T	A	9: 95,761,390	T519S	probably benign	Het
Rcn3	A	G	7: 45,086,694	F197L	probably benign	Het
Rnf213	C	T	11: 119,458,392	T3773I		Het
Rprd1b	A	T	2: 158,047,957	I153L	probably benign	Het
Scel	A	G	14: 103,592,368	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,910,076	S548L	possibly damaging	Het
Sim1	T	A	10: 50,984,188	Y715*	probably null	Het
Slc18a2	A	T	19: 59,293,861	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,886,503	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,109,520	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623	T396A	probably benign	Het
Tas2r104	T	C	6: 131,685,558	T63A	possibly damaging	Het
Top2a	C	T	11: 99,001,373	A1088T	probably benign	Het
Ucp1	T	C	8: 83,293,948	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298	D41E	probably benign	Het
Usp10	T	G	8: 119,954,892	V696G	probably benign	Het
Xylt2	C	T	11: 94,666,240	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,216,476	N41K	probably damaging	Het
Zfp109	T	A	7: 24,229,354	D218V	probably benign	Het
Zfp420	G	A	7: 29,876,005	R550Q	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
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
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'- TGTGGACCTCTAAACACAGCAATTC -3'
(R):5'- GACAGGTGGTGTTAGCTCAC -3'

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

Posted On

2019-06-07