Mutagenetix > Incidental Mutation

Incidental Mutation 'R6503:Cage1'

519851

Institutional Source

Beutler Lab

Gene Symbol

Cage1

Ensembl Gene

ENSMUSG00000044566

Gene Name

cancer antigen 1

Synonyms

Ctag3, CAGE1, 4933427I01Rik

MMRRC Submission

044635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6503 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38190028-38221045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38209425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 78 (T78I)

Ref Sequence

ENSEMBL: ENSMUSP00000087278 (fasta)

Gene Model

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

AlphaFold

Q5IR70

Predicted Effect

probably benign
Transcript: ENSMUST00000074969
AA Change: T184I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000074499
Gene: ENSMUSG00000044566
AA Change: T184I

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

possibly damaging
Transcript: ENSMUST00000089840
AA Change: T78I

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087278
Gene: ENSMUSG00000044566
AA Change: T78I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110233
AA Change: T184I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105862
Gene: ENSMUSG00000044566
AA Change: T184I

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

probably benign
Transcript: ENSMUST00000131066
AA Change: T184I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122393
Gene: ENSMUSG00000044566
AA Change: T184I

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	T	7: 78,747,580 (GRCm39)	A784S	probably benign	Het
Anxa4	A	G	6: 86,721,649 (GRCm39)	S204P	probably damaging	Het
Arhgef7	A	G	8: 11,883,054 (GRCm39)	N625D	possibly damaging	Het
Dnaaf2	A	T	12: 69,244,285 (GRCm39)	C259S	probably benign	Het
Enah	C	T	1: 181,746,076 (GRCm39)	G402R	probably damaging	Het
Epha6	T	A	16: 60,025,984 (GRCm39)	H486L	possibly damaging	Het
Fat4	A	G	3: 39,036,406 (GRCm39)	M3353V	probably benign	Het
Gulp1	A	T	1: 44,812,540 (GRCm39)	Q170L	probably damaging	Het
Jag1	C	T	2: 136,943,549 (GRCm39)	G216S	probably damaging	Het
Krt8	T	A	15: 101,906,369 (GRCm39)	Y380F	possibly damaging	Het
Mettl18	T	C	1: 163,824,687 (GRCm39)	V336A	possibly damaging	Het
Ntmt2	T	A	1: 163,531,715 (GRCm39)	D146V	probably damaging	Het
Oas1e	T	C	5: 120,926,042 (GRCm39)	D342G	probably benign	Het
Or4a75	A	G	2: 89,447,922 (GRCm39)	S205P	possibly damaging	Het
Parp10	G	A	15: 76,126,684 (GRCm39)	R195C	probably damaging	Het
Pcdha1	G	A	18: 37,064,724 (GRCm39)	V463M	probably damaging	Het
Prb1c	C	A	6: 132,338,655 (GRCm39)	G188*	probably null	Het
Rb1	T	C	14: 73,443,320 (GRCm39)	I778V	probably benign	Het
Sacs	T	A	14: 61,448,810 (GRCm39)	S3619T	probably benign	Het
St18	A	T	1: 6,865,621 (GRCm39)	D33V	probably damaging	Het
Stag3	T	C	5: 138,302,682 (GRCm39)	S1014P	probably damaging	Het
Syngap1	A	G	17: 27,163,658 (GRCm39)	D40G	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem131l	A	G	3: 83,848,251 (GRCm39)	S300P	probably benign	Het

Other mutations in Cage1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Cage1	APN	13	38,206,969 (GRCm39)	nonsense	probably null
IGL01736:Cage1	APN	13	38,206,789 (GRCm39)	missense	possibly damaging	0.93
IGL02149:Cage1	APN	13	38,206,505 (GRCm39)	missense	probably damaging	1.00
IGL02267:Cage1	APN	13	38,207,233 (GRCm39)	missense	probably damaging	1.00
IGL03030:Cage1	APN	13	38,212,123 (GRCm39)	missense	probably benign
IGL03216:Cage1	APN	13	38,190,153 (GRCm39)	splice site	probably benign
R0487:Cage1	UTSW	13	38,209,334 (GRCm39)	missense	probably benign	0.00
R0606:Cage1	UTSW	13	38,200,470 (GRCm39)	splice site	probably benign
R1015:Cage1	UTSW	13	38,200,451 (GRCm39)	missense	possibly damaging	0.96
R1170:Cage1	UTSW	13	38,206,856 (GRCm39)	missense	probably damaging	1.00
R1400:Cage1	UTSW	13	38,216,400 (GRCm39)	missense	possibly damaging	0.86
R1721:Cage1	UTSW	13	38,207,309 (GRCm39)	nonsense	probably null
R2057:Cage1	UTSW	13	38,207,356 (GRCm39)	missense	probably benign	0.04
R2058:Cage1	UTSW	13	38,207,356 (GRCm39)	missense	probably benign	0.04
R2059:Cage1	UTSW	13	38,207,356 (GRCm39)	missense	probably benign	0.04
R2197:Cage1	UTSW	13	38,207,029 (GRCm39)	missense	probably damaging	1.00
R3757:Cage1	UTSW	13	38,209,705 (GRCm39)	missense	possibly damaging	0.71
R3758:Cage1	UTSW	13	38,209,705 (GRCm39)	missense	possibly damaging	0.71
R4041:Cage1	UTSW	13	38,203,153 (GRCm39)	missense	possibly damaging	0.96
R4370:Cage1	UTSW	13	38,209,626 (GRCm39)	missense	probably damaging	1.00
R4401:Cage1	UTSW	13	38,207,078 (GRCm39)	missense	probably damaging	1.00
R4402:Cage1	UTSW	13	38,207,078 (GRCm39)	missense	probably damaging	1.00
R4403:Cage1	UTSW	13	38,207,078 (GRCm39)	missense	probably damaging	1.00
R4490:Cage1	UTSW	13	38,207,393 (GRCm39)	missense	possibly damaging	0.86
R4621:Cage1	UTSW	13	38,209,477 (GRCm39)	missense	possibly damaging	0.85
R4921:Cage1	UTSW	13	38,203,184 (GRCm39)	missense	probably benign	0.33
R4950:Cage1	UTSW	13	38,207,302 (GRCm39)	missense	possibly damaging	0.55
R4953:Cage1	UTSW	13	38,207,406 (GRCm39)	missense	possibly damaging	0.51
R5023:Cage1	UTSW	13	38,195,387 (GRCm39)	nonsense	probably null
R5808:Cage1	UTSW	13	38,206,301 (GRCm39)	unclassified	probably benign
R5845:Cage1	UTSW	13	38,199,682 (GRCm39)	missense	probably damaging	0.96
R6278:Cage1	UTSW	13	38,200,395 (GRCm39)	missense	possibly damaging	0.53
R6882:Cage1	UTSW	13	38,206,534 (GRCm39)	missense	probably damaging	1.00
R7146:Cage1	UTSW	13	38,207,025 (GRCm39)	missense	probably benign	0.03
R7192:Cage1	UTSW	13	38,203,220 (GRCm39)	missense	probably benign
R7529:Cage1	UTSW	13	38,209,731 (GRCm39)	missense	possibly damaging	0.71
R7580:Cage1	UTSW	13	38,206,700 (GRCm39)	missense	possibly damaging	0.90
R7646:Cage1	UTSW	13	38,206,823 (GRCm39)	missense	probably damaging	1.00
R7837:Cage1	UTSW	13	38,206,381 (GRCm39)	missense	not run
R8355:Cage1	UTSW	13	38,203,225 (GRCm39)	missense	probably damaging	0.99
R8435:Cage1	UTSW	13	38,203,161 (GRCm39)	missense	possibly damaging	0.73
R8466:Cage1	UTSW	13	38,206,987 (GRCm39)	missense	probably damaging	1.00
R9047:Cage1	UTSW	13	38,201,338 (GRCm39)	missense	possibly damaging	0.85
R9086:Cage1	UTSW	13	38,206,898 (GRCm39)	missense	probably damaging	1.00
R9146:Cage1	UTSW	13	38,207,005 (GRCm39)	missense	probably benign	0.16
R9442:Cage1	UTSW	13	38,196,447 (GRCm39)	missense	possibly damaging	0.72
R9587:Cage1	UTSW	13	38,207,233 (GRCm39)	missense	probably damaging	1.00
R9608:Cage1	UTSW	13	38,195,371 (GRCm39)	missense	possibly damaging	0.73
R9612:Cage1	UTSW	13	38,216,351 (GRCm39)	missense	probably damaging	0.99
R9630:Cage1	UTSW	13	38,206,855 (GRCm39)	missense	probably damaging	1.00
R9690:Cage1	UTSW	13	38,203,141 (GRCm39)	critical splice donor site	probably null
R9736:Cage1	UTSW	13	38,207,393 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATAGGCTTTAATGACACCAGC -3'
(R):5'- TACTCGGAGAAGCCAGAGTTG -3'

Sequencing Primer
(F):5'- TTTAATGACACCAGCACCCGAG -3'
(R):5'- TTGCCAAGCCAGGTATACAATG -3'

Posted On

2018-06-06