Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Ccdc148'

188148

Institutional Source

Beutler Lab

Gene Symbol

Ccdc148

Ensembl Gene

ENSMUSG00000036641

Gene Name

coiled-coil domain containing 148

Synonyms

MMRRC Submission

039713-MU

Accession Numbers

Essential gene?

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

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58821070-59160683 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59002164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

Ref Sequence

ENSEMBL: ENSMUSP00000153944 (fasta)

Gene Model

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

AlphaFold

Q6P5U8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077687
AA Change: D100G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: D100G

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: D172G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.1750

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,517,357	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,301,364		probably null	Het
A430005L14Rik	G	A	4: 153,960,900	V129M	probably damaging	Het
Actg2	T	C	6: 83,522,819	T150A	possibly damaging	Het
Actn1	A	T	12: 80,260,032	D20E	probably benign	Het
AI464131	C	T	4: 41,497,947	R561H	probably benign	Het
Alcam	C	T	16: 52,270,773	E461K	probably damaging	Het
Anapc1	G	A	2: 128,676,208	P242L	probably benign	Het
Ankrd49	A	T	9: 14,781,378	D163E	probably benign	Het
Armc4	T	C	18: 7,222,554	T572A	probably benign	Het
Atp8b5	G	A	4: 43,372,903	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,642,574	V328F	probably damaging	Het
Camk4	T	C	18: 33,176,222	I226T	probably damaging	Het
Cdh12	A	G	15: 21,520,405	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,061,998		probably benign	Het
Cfap69	A	C	5: 5,582,457	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,285,167	S364A	possibly damaging	Het
Clic6	G	A	16: 92,528,084	G36R	probably damaging	Het
Col6a3	T	C	1: 90,821,861	Y417C	probably benign	Het
Cstf3	T	A	2: 104,664,278		probably benign	Het
Cyp4f39	G	A	17: 32,492,330	A484T	probably benign	Het
Dnah3	T	C	7: 119,928,740	N3829D	probably damaging	Het
Dntt	C	A	19: 41,029,484	P16T	probably benign	Het
Dym	T	A	18: 75,125,512	I447N	probably damaging	Het
Elmo1	T	C	13: 20,589,671	V617A	probably benign	Het
Elovl7	G	A	13: 108,282,626	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571	Y610*	probably null	Het
Fn1	T	C	1: 71,597,655	I178V	probably benign	Het
Fndc9	T	C	11: 46,238,325	Y224H	probably benign	Het
Gad1	T	C	2: 70,574,177	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,700,761		probably null	Het
Gbp11	C	T	5: 105,327,411	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,164	A390V	probably benign	Het
Gm6811	A	G	17: 21,093,923		noncoding transcript	Het
Gm884	A	T	11: 103,614,942	S2067T	probably benign	Het
Gm9825	A	T	6: 7,982,943		noncoding transcript	Het
Htt	A	T	5: 34,828,574	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,971,101	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,303,501	Y240C	probably damaging	Het
Itga3	T	C	11: 95,055,759	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,794,540	D134E	probably damaging	Het
Kif2b	C	A	11: 91,575,972	R495I	probably damaging	Het
Lef1	T	C	3: 131,200,289		probably benign	Het
Lias	C	T	5: 65,391,638	R4C	probably damaging	Het
Lpcat2	T	C	8: 92,864,932	V68A	probably benign	Het
Lrrc8e	A	T	8: 4,234,190	K138N	probably damaging	Het
Map4k5	G	A	12: 69,805,308	H767Y	probably benign	Het
Mga	C	A	2: 119,960,852	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,209,341	S418T	probably benign	Het
Myh7	C	T	14: 54,987,516	M531I	probably benign	Het
Ncaph2	T	A	15: 89,371,224	M555K	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Ncoa6	T	C	2: 155,402,664		probably benign	Het
Nrp2	A	G	1: 62,783,320	S691G	probably benign	Het
Odf2l	A	T	3: 145,139,782		probably null	Het
Olfr1109	T	A	2: 87,092,737	H220L	probably benign	Het
Pcdh20	A	G	14: 88,467,974	V630A	probably damaging	Het
Pebp4	T	C	14: 70,048,474		probably null	Het
Ppfia3	T	A	7: 45,356,666	M301L	probably benign	Het
Ppil2	A	G	16: 17,103,610	L70P	probably damaging	Het
Ppp1r21	C	A	17: 88,550,669	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,843,353	V256A	probably benign	Het
Rbfox1	A	G	16: 7,292,227	R150G	possibly damaging	Het
Robo3	T	C	9: 37,417,709	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,453,801	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,355,475	A254E	probably damaging	Het
Shtn1	T	A	19: 59,009,790	K390N	probably damaging	Het
Sidt2	C	T	9: 45,953,219	V71I	probably benign	Het
Sirt7	A	G	11: 120,624,539	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,163,204	S466P	probably benign	Het
Slc2a10	T	A	2: 165,515,441	D340E	probably benign	Het
Slc36a2	A	C	11: 55,184,909	N17K	probably benign	Het
Slc4a10	A	C	2: 62,324,727	N1086T	probably benign	Het
Sptb	T	C	12: 76,629,649	D177G	probably damaging	Het
Srpk2	A	T	5: 23,525,750		probably null	Het
Sucla2	T	G	14: 73,592,681	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089	N45K	possibly damaging	Het
Tbxas1	T	C	6: 39,017,888		probably benign	Het
Topors	C	T	4: 40,261,776	E503K	probably damaging	Het
Trpv5	T	C	6: 41,657,797	R533G	probably benign	Het
Tshr	A	G	12: 91,537,341	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,275,315	V94M	probably damaging	Het
Ugdh	A	G	5: 65,423,178	S216P	probably damaging	Het
Unc45b	T	A	11: 82,911,705		probably null	Het
Vmn1r226	A	G	17: 20,688,073	E189G	probably damaging	Het
Xrcc6	T	G	15: 82,029,699	D75E	probably benign	Het
Zcwpw1	A	T	5: 137,796,760	R73W	probably damaging	Het
Zfp219	T	C	14: 52,009,055	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,179,533		probably benign	Het
Zscan22	C	A	7: 12,906,803	P325T	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
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'- GGGCAGTCCAACGTTACTAACTCC -3'
(R):5'- GACTCCTCACCAAGGCTTGCTTATG -3'

Sequencing Primer
(F):5'- CTGTTCGCTGAGCAAGTTAG -3'
(R):5'- ACCAAGGCTTGCTTATGTGTTG -3'

Posted On

2014-05-09