Mutagenetix > Incidental Mutation

Incidental Mutation 'R1014:Caap1'

95979

Institutional Source

Beutler Lab

Gene Symbol

Caap1

Ensembl Gene

ENSMUSG00000028578

Gene Name

caspase activity and apoptosis inhibitor 1

Synonyms

5830433M19Rik

MMRRC Submission

039118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1014 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94388318-94445033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94437383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 193 (C193Y)

Ref Sequence

ENSEMBL: ENSMUSP00000030313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030313]

AlphaFold

Q8VDY9

Predicted Effect

probably benign
Transcript: ENSMUST00000030313
AA Change: C193Y

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000030313
Gene: ENSMUSG00000028578
AA Change: C193Y

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
low complexity region	33	58	N/A	INTRINSIC
low complexity region	60	78	N/A	INTRINSIC
Pfam:CAAP1	113	175	3.2e-31	PFAM
low complexity region	254	271	N/A	INTRINSIC
coiled coil region	276	303	N/A	INTRINSIC
low complexity region	331	337	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153294

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	C	4: 126,400,578 (GRCm39)	R712G	probably damaging	Het
Arg1	C	A	10: 24,792,758 (GRCm39)	V159L	probably benign	Het
Cdh12	A	T	15: 21,492,706 (GRCm39)	M242L	probably damaging	Het
Col19a1	A	T	1: 24,340,354 (GRCm39)		probably null	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,674 (GRCm39)	T101A	possibly damaging	Het
Dll4	T	C	2: 119,161,638 (GRCm39)	C407R	probably damaging	Het
Ebf4	T	C	2: 130,207,388 (GRCm39)	S484P	probably benign	Het
Gm10300	A	G	4: 131,802,023 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,645 (GRCm39)	I105T	possibly damaging	Het
Mrgprx2	A	G	7: 48,132,306 (GRCm39)		probably null	Het
Musk	T	C	4: 58,354,156 (GRCm39)	L403P	possibly damaging	Het
Myh11	T	C	16: 14,054,274 (GRCm39)	K363R	possibly damaging	Het
Nadk2	T	C	15: 9,091,334 (GRCm39)	F202L	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nup210l	C	T	3: 90,077,355 (GRCm39)	T897M	possibly damaging	Het
Or52h9	T	C	7: 104,202,383 (GRCm39)	W86R	probably damaging	Het
Pcdh17	A	G	14: 84,684,928 (GRCm39)	D465G	probably damaging	Het
Pcdhb11	T	A	18: 37,556,422 (GRCm39)	L584Q	probably damaging	Het
Pcdhb5	T	C	18: 37,455,303 (GRCm39)	L561P	probably damaging	Het
Pck2	A	G	14: 55,779,867 (GRCm39)	S12G	probably benign	Het
Pcsk1	A	G	13: 75,280,353 (GRCm39)	D726G	probably damaging	Het
Pcsk5	G	T	19: 17,542,194 (GRCm39)	A799E	probably damaging	Het
Pkp3	A	G	7: 140,662,739 (GRCm39)	Y117C	probably benign	Het
Poldip2	T	A	11: 78,405,988 (GRCm39)	D106E	probably damaging	Het
Ppm1d	C	A	11: 85,227,980 (GRCm39)	H299N	probably damaging	Het
Ptprz1	A	G	6: 23,000,643 (GRCm39)	Y911C	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rtf1	T	G	2: 119,550,727 (GRCm39)	S329A	possibly damaging	Het
Slc12a2	T	C	18: 58,054,882 (GRCm39)	I841T	probably benign	Het
Slc2a3	T	C	6: 122,708,525 (GRCm39)	I367V	possibly damaging	Het
Slc30a8	A	G	15: 52,194,993 (GRCm39)	T251A	probably damaging	Het
Spryd3	T	A	15: 102,041,966 (GRCm39)	N19Y	probably damaging	Het
Tll2	A	T	19: 41,092,290 (GRCm39)	Y516N	probably damaging	Het
Tlr5	G	A	1: 182,803,242 (GRCm39)	G849R	probably benign	Het
Wdr64	A	G	1: 175,583,192 (GRCm39)	E376G	probably damaging	Het
Zfp318	GAA	GAANAA	17: 46,723,462 (GRCm39)		probably null	Het

Other mutations in Caap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Caap1	APN	4	94,438,667 (GRCm39)	missense	probably damaging	0.98
IGL02542:Caap1	APN	4	94,438,742 (GRCm39)	missense	probably benign	0.15
IGL03162:Caap1	APN	4	94,389,261 (GRCm39)	utr 3 prime	probably benign
R0485:Caap1	UTSW	4	94,438,758 (GRCm39)	splice site	probably null
R1570:Caap1	UTSW	4	94,444,814 (GRCm39)	missense	probably benign	0.27
R3726:Caap1	UTSW	4	94,389,380 (GRCm39)	missense	probably damaging	0.99
R4745:Caap1	UTSW	4	94,444,751 (GRCm39)	splice site	probably null
R4815:Caap1	UTSW	4	94,389,497 (GRCm39)	missense	probably benign	0.01
R4970:Caap1	UTSW	4	94,409,297 (GRCm39)	critical splice donor site	probably null
R5143:Caap1	UTSW	4	94,389,619 (GRCm39)	missense	probably damaging	0.98
R5265:Caap1	UTSW	4	94,389,465 (GRCm39)	nonsense	probably null
R6513:Caap1	UTSW	4	94,389,640 (GRCm39)	missense	possibly damaging	0.90
R8936:Caap1	UTSW	4	94,389,332 (GRCm39)	missense	probably damaging	1.00
R9619:Caap1	UTSW	4	94,444,718 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCGTCCACTGACAATGGTTCTCAAAA -3'
(R):5'- cacacacacacacGTAAACAACATCAA -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GGCACTTTTTATGTACTGATACAGT -3'

Posted On

2014-01-05