Mutagenetix > Incidental Mutation

Incidental Mutation 'R7379:Ccdc149'

572570

Institutional Source

Beutler Lab

Gene Symbol

Ccdc149

Ensembl Gene

ENSMUSG00000045790

Gene Name

coiled-coil domain containing 149

Synonyms

Gm447, LOC242997

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7379 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

52374651-52471521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52405066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 206 (I206T)

Ref Sequence

ENSEMBL: ENSMUSP00000062411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059428] [ENSMUST00000198008]

AlphaFold

F6V035

Predicted Effect

probably damaging
Transcript: ENSMUST00000059428
AA Change: I206T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062411
Gene: ENSMUSG00000045790
AA Change: I206T

Domain	Start	End	E-Value	Type
Pfam:DUF2353	21	333	3.5e-117	PFAM
low complexity region	388	404	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198008

SMART Domains

Protein: ENSMUSP00000143041
Gene: ENSMUSG00000045790

Domain	Start	End	E-Value	Type
Pfam:DUF2353	21	138	1.5e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213027
AA Change: I19T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 65,985,247	R1064*	probably null	Het
Ctu1	AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG	AGGACCGGGCAGGAGCCACCTGTGTATCGCAG	7: 43,677,066		probably benign	Het
Cyp2j6	T	C	4: 96,525,946	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,493,710		probably null	Het
Cyp7b1	A	G	3: 18,097,374	V225A	probably benign	Het
Esf1	A	G	2: 140,154,934	I503T	probably benign	Het
Flrt2	G	A	12: 95,780,555	V556I	possibly damaging	Het
Gaa	T	C	11: 119,283,699	S791P	probably benign	Het
H2-T22	A	G	17: 36,042,340		probably null	Het
Hexb	A	G	13: 97,181,164	S342P	probably damaging	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ift57	A	G	16: 49,760,994	E341G	probably damaging	Het
Itpkc	A	T	7: 27,227,769	I240K	probably benign	Het
Kit	A	T	5: 75,647,752	S719C	probably damaging	Het
Klf1	T	A	8: 84,903,217	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,861,274	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,960,979	D347E	probably damaging	Het
Map1s	A	G	8: 70,913,575	T375A	possibly damaging	Het
Mturn	A	G	6: 54,689,084	T81A	possibly damaging	Het
Mug2	A	G	6: 122,047,487	E506G	possibly damaging	Het
Notch1	A	G	2: 26,479,467	F512S	probably damaging	Het
Olfr1148	T	A	2: 87,833,779	C247S	probably damaging	Het
Olfr1255	T	A	2: 89,816,689	V115E	probably benign	Het
Olfr1410	G	T	1: 92,608,467	C210F	possibly damaging	Het
Olfr1510	T	C	14: 52,410,261	T204A	probably benign	Het
Pcdhga10	A	G	18: 37,747,566	N127D	probably damaging	Het
Plb1	A	G	5: 32,345,639	I1148V	probably damaging	Het
Plcb1	A	G	2: 135,370,510	D1007G	probably benign	Het
Prdm16	T	A	4: 154,528,859	E37V	probably damaging	Het
Prss45	C	A	9: 110,839,193	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981	K513*	probably null	Het
Serpinb10	T	C	1: 107,532,387		probably benign	Het
Shc1	T	C	3: 89,426,822	V402A	probably benign	Het
Slc25a38	T	A	9: 120,120,836	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,336,839	K514*	probably null	Het
Sorcs3	T	C	19: 48,772,266	V911A	possibly damaging	Het
Sptb	A	T	12: 76,610,877	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,139,292	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,427,640		probably null	Het
Stx2	A	G	5: 128,987,799	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902	N558I	probably benign	Het
Trpm2	T	C	10: 77,914,734	T1343A	probably benign	Het
Usf3	T	A	16: 44,220,576	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,267,775	M787I	possibly damaging	Het
Wdfy4	A	G	14: 33,151,609	S248P		Het
Zeb2	G	T	2: 45,001,817		probably null	Het

Other mutations in Ccdc149

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Ccdc149	APN	5	52376322	missense	probably benign	0.15
IGL02002:Ccdc149	APN	5	52406079	missense	probably damaging	1.00
pequeno	UTSW	5	52405133	nonsense	probably null
R0226:Ccdc149	UTSW	5	52400217	missense	probably damaging	1.00
R0420:Ccdc149	UTSW	5	52400239	splice site	probably benign
R0959:Ccdc149	UTSW	5	52385155	missense	probably damaging	1.00
R2075:Ccdc149	UTSW	5	52439168	missense	probably damaging	1.00
R2355:Ccdc149	UTSW	5	52420772	missense	probably damaging	0.99
R4755:Ccdc149	UTSW	5	52404151	missense	probably damaging	0.96
R5596:Ccdc149	UTSW	5	52404151	missense	probably damaging	0.96
R5955:Ccdc149	UTSW	5	52376535	missense	probably benign	0.00
R5993:Ccdc149	UTSW	5	52402775	missense	probably damaging	1.00
R6351:Ccdc149	UTSW	5	52385135	missense	probably benign
R6742:Ccdc149	UTSW	5	52405133	nonsense	probably null
R6939:Ccdc149	UTSW	5	52376265	missense	probably benign	0.00
R6963:Ccdc149	UTSW	5	52439097	missense	probably damaging	1.00
R7715:Ccdc149	UTSW	5	52404191	critical splice acceptor site	probably null
R7920:Ccdc149	UTSW	5	52405094	missense	probably damaging	0.98
R8154:Ccdc149	UTSW	5	52385104	critical splice donor site	probably null
R8489:Ccdc149	UTSW	5	52376657	missense	probably benign	0.01
R8791:Ccdc149	UTSW	5	52439210	missense	probably damaging	1.00
R9091:Ccdc149	UTSW	5	52406010	missense	possibly damaging	0.81
R9270:Ccdc149	UTSW	5	52406010	missense	possibly damaging	0.81
R9332:Ccdc149	UTSW	5	52405057	missense	probably damaging	1.00
R9334:Ccdc149	UTSW	5	52420829	missense	possibly damaging	0.49
R9501:Ccdc149	UTSW	5	52385135	missense	probably benign
Z1176:Ccdc149	UTSW	5	52420813	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTAGGCAGGGTTTCAGGGATAC -3'
(R):5'- GAAGCTCTGTGACATTCCTTGG -3'

Sequencing Primer
(F):5'- GCACGCACACACACACG -3'
(R):5'- CATTCCTTGGATTTCAGATAGAGTCG -3'

Posted On

2019-09-13