Mutagenetix > Incidental Mutations

Incidental Mutation 'R3758:Cage1'

271534

Institutional Source

Beutler Lab

Gene Symbol

Cage1

Ensembl Gene

ENSMUSG00000044566

Gene Name

cancer antigen 1

Synonyms

Ctag3, 4933427I01Rik, CAGE1

MMRRC Submission

040739-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R3758 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38006052-38037069 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38025729 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 91 (F91V)

Ref Sequence

ENSEMBL: ENSMUSP00000122393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074969] [ENSMUST00000089840] [ENSMUST00000110233] [ENSMUST00000131066]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074969
AA Change: F91V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: F91V

Domain	Start	End	E-Value	Type
Pfam:CAGE1	1	526	5.1e-292	PFAM
low complexity region	664	682	N/A	INTRINSIC
coiled coil region	778	811	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089840

SMART Domains

Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566

Domain	Start	End	E-Value	Type
Pfam:CAGE1	1	420	6.8e-230	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110233
AA Change: F91V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: F91V

Domain	Start	End	E-Value	Type
Pfam:CAGE1	1	526	2.4e-255	PFAM
low complexity region	664	682	N/A	INTRINSIC
coiled coil region	778	811	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131066
AA Change: F91V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566
AA Change: F91V

Domain	Start	End	E-Value	Type
Pfam:CAGE1	1	318	6.5e-167	PFAM

Meta Mutation Damage Score

0.1466

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

93% (28/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 12,927,467		probably benign	Het
Bcat1	T	A	6: 145,032,872	I208F	probably damaging	Het
Cd200r3	T	G	16: 44,964,628		probably null	Het
Coq8b	C	T	7: 27,242,227	Q246*	probably null	Het
Dmxl1	G	A	18: 49,935,317	G2719D	probably damaging	Het
Fbln2	T	C	6: 91,256,381	S616P	probably damaging	Het
Fkbp10	G	A	11: 100,422,625		probably null	Het
Gabra1	G	T	11: 42,175,936	D50E	probably benign	Het
Hist1h1e	T	A	13: 23,622,257	K81*	probably null	Het
Hmgcs2	A	G	3: 98,291,090	N103S	probably damaging	Het
Htt	A	G	5: 34,895,970	H2549R	probably damaging	Het
Lrba	A	G	3: 86,776,049	E2726G	probably damaging	Het
Lrrc7	T	C	3: 158,163,965	N706D	probably damaging	Het
Mill1	G	A	7: 18,262,703		probably null	Het
Nipa2	T	C	7: 55,935,941	Y102C	probably damaging	Het
Nmd3	T	A	3: 69,724,308	C32*	probably null	Het
Olfr1251	A	G	2: 89,667,572	F105L	probably benign	Het
Olfr582	A	G	7: 103,041,970	S159G	probably benign	Het
Olfr745	A	G	14: 50,643,036	K252E	possibly damaging	Het
Olfr777	T	C	10: 129,269,065	D86G	probably damaging	Het
Pcdhb7	A	G	18: 37,343,026	D405G	possibly damaging	Het
Ptprt	A	T	2: 161,812,030	L560Q	probably damaging	Het
Serpinb9b	A	G	13: 33,035,588	Y166C	probably damaging	Het
Soga1	T	C	2: 157,020,638	N1457S	possibly damaging	Het
Sprr1a	T	G	3: 92,484,397	K99T	probably damaging	Het
Spsb4	A	G	9: 96,995,871	V133A	probably damaging	Het
Suz12	A	G	11: 80,024,942	T391A	probably benign	Het
Tor1aip2	A	G	1: 156,065,289	E447G	probably damaging	Het
Ube4a	G	A	9: 44,949,900		probably benign	Het
Wdfy4	A	C	14: 33,023,374	H2296Q	probably benign	Het

Other mutations in Cage1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Cage1	APN	13	38022993	nonsense	probably null
IGL01736:Cage1	APN	13	38022813	missense	possibly damaging	0.93
IGL02149:Cage1	APN	13	38022529	missense	probably damaging	1.00
IGL02267:Cage1	APN	13	38023257	missense	probably damaging	1.00
IGL03030:Cage1	APN	13	38028147	missense	probably benign
IGL03216:Cage1	APN	13	38006177	splice site	probably benign
R0487:Cage1	UTSW	13	38025358	missense	probably benign	0.00
R0606:Cage1	UTSW	13	38016494	splice site	probably benign
R1015:Cage1	UTSW	13	38016475	missense	possibly damaging	0.96
R1170:Cage1	UTSW	13	38022880	missense	probably damaging	1.00
R1400:Cage1	UTSW	13	38032424	missense	possibly damaging	0.86
R1721:Cage1	UTSW	13	38023333	nonsense	probably null
R2057:Cage1	UTSW	13	38023380	missense	probably benign	0.04
R2058:Cage1	UTSW	13	38023380	missense	probably benign	0.04
R2059:Cage1	UTSW	13	38023380	missense	probably benign	0.04
R2197:Cage1	UTSW	13	38023053	missense	probably damaging	1.00
R3757:Cage1	UTSW	13	38025729	missense	possibly damaging	0.71
R4041:Cage1	UTSW	13	38019177	missense	possibly damaging	0.96
R4370:Cage1	UTSW	13	38025650	missense	probably damaging	1.00
R4401:Cage1	UTSW	13	38023102	missense	probably damaging	1.00
R4402:Cage1	UTSW	13	38023102	missense	probably damaging	1.00
R4403:Cage1	UTSW	13	38023102	missense	probably damaging	1.00
R4490:Cage1	UTSW	13	38023417	missense	possibly damaging	0.86
R4621:Cage1	UTSW	13	38025501	missense	possibly damaging	0.85
R4921:Cage1	UTSW	13	38019208	missense	probably benign	0.33
R4950:Cage1	UTSW	13	38023326	missense	possibly damaging	0.55
R4953:Cage1	UTSW	13	38023430	missense	possibly damaging	0.51
R5023:Cage1	UTSW	13	38011411	nonsense	probably null
R5808:Cage1	UTSW	13	38022325	unclassified	probably benign
R5845:Cage1	UTSW	13	38015706	missense	probably damaging	0.96
R6278:Cage1	UTSW	13	38016419	missense	possibly damaging	0.53
R6503:Cage1	UTSW	13	38025449	missense	possibly damaging	0.73
R6882:Cage1	UTSW	13	38022558	missense	probably damaging	1.00
R7146:Cage1	UTSW	13	38023049	missense	probably benign	0.03
R7192:Cage1	UTSW	13	38019244	missense	probably benign
R7529:Cage1	UTSW	13	38025755	missense	possibly damaging	0.71
R7580:Cage1	UTSW	13	38022724	missense	possibly damaging	0.90
R7646:Cage1	UTSW	13	38022847	missense	probably damaging	1.00
R7837:Cage1	UTSW	13	38022405	missense	not run
R8355:Cage1	UTSW	13	38019249	missense	probably damaging	0.99
R8435:Cage1	UTSW	13	38019185	missense	possibly damaging	0.73
R8466:Cage1	UTSW	13	38023011	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACTGAACTTTCTTCCTTAAATGG -3'
(R):5'- ATCATGAGTTTGAGGCTATCTTGAG -3'

Sequencing Primer
(F):5'- AAATGGATCTGGCTTTTCACTGC -3'
(R):5'- TGAGGCTATCTTGAGATCAATAGAAG -3'

Posted On

2015-03-18