Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03233:Cab39'

413973

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cab39

Ensembl Gene

ENSMUSG00000036707

Gene Name

calcium binding protein 39

Synonyms

MO25alpha, 39kDa

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL03233

Quality Score

Status

Chromosome

Chromosomal Location

85721162-85779297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85770044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 175 (M175K)

Ref Sequence

ENSEMBL: ENSMUSP00000108987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097666] [ENSMUST00000113360]

AlphaFold

Q06138

Predicted Effect

probably benign
Transcript: ENSMUST00000097666
AA Change: M175K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095270
Gene: ENSMUSG00000036707
AA Change: M175K

Domain	Start	End	E-Value	Type
Pfam:Mo25	3	334	7.1e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113360
AA Change: M175K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108987
Gene: ENSMUSG00000036707
AA Change: M175K

Domain	Start	End	E-Value	Type
Pfam:Mo25	1	335	2.7e-148	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187623

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	T	C	4: 86,260,357 (GRCm39)	F856S	probably damaging	Het
Ak7	A	G	12: 105,727,739 (GRCm39)	D457G	probably damaging	Het
Ankrd26	G	T	6: 118,512,107 (GRCm39)		probably null	Het
Ano5	C	A	7: 51,220,116 (GRCm39)	P405T	probably damaging	Het
Asah2	T	A	19: 32,032,031 (GRCm39)	N46I	probably benign	Het
Atg4c	A	T	4: 99,117,740 (GRCm39)	Y343F	probably benign	Het
Cadps2	T	C	6: 23,263,600 (GRCm39)	E1257G	probably benign	Het
Ces1d	A	G	8: 93,921,707 (GRCm39)	Y19H	probably benign	Het
Cst6	T	C	19: 5,399,289 (GRCm39)	D25G	probably damaging	Het
Cyp4a30b	A	T	4: 115,316,167 (GRCm39)	T298S	probably benign	Het
Dgkk	T	C	X: 6,770,077 (GRCm39)	L352P	probably damaging	Het
Dnai7	A	T	6: 145,127,611 (GRCm39)	Y433N	probably damaging	Het
Dync2h1	A	C	9: 7,101,525 (GRCm39)	F482V	possibly damaging	Het
Esco1	A	G	18: 10,574,877 (GRCm39)	W208R	probably damaging	Het
Fbn2	T	C	18: 58,235,449 (GRCm39)	D676G	probably benign	Het
Foxp3	T	C	X: 7,453,662 (GRCm39)		probably benign	Het
Gpr108	T	A	17: 57,552,042 (GRCm39)	I123F	probably benign	Het
Gsdmc4	A	T	15: 63,774,709 (GRCm39)	V24E	probably damaging	Het
Jam3	C	A	9: 27,013,217 (GRCm39)	V118F	probably damaging	Het
Kif23	T	A	9: 61,833,735 (GRCm39)	I489F	probably benign	Het
Lama3	T	A	18: 12,614,095 (GRCm39)	V1288D	probably damaging	Het
Mark2	G	T	19: 7,262,091 (GRCm39)	H308N	possibly damaging	Het
Mms19	T	C	19: 41,935,352 (GRCm39)		probably null	Het
Neb	A	T	2: 52,198,313 (GRCm39)	I477N	possibly damaging	Het
Npm1	G	T	11: 33,106,717 (GRCm39)	Q204K	probably benign	Het
Nsun5	G	A	5: 135,404,299 (GRCm39)	V369M	probably damaging	Het
Or7a39	C	A	10: 78,715,406 (GRCm39)	Y133*	probably null	Het
Pcdhb13	T	A	18: 37,577,318 (GRCm39)	N565K	probably damaging	Het
Pla2r1	A	G	2: 60,258,924 (GRCm39)	F1155L	possibly damaging	Het
Pus10	T	A	11: 23,662,241 (GRCm39)	W304R	probably damaging	Het
Rab32	G	A	10: 10,422,057 (GRCm39)	Q221*	probably null	Het
Rlf	A	G	4: 121,039,797 (GRCm39)		probably benign	Het
Robo1	A	T	16: 72,767,081 (GRCm39)	I418F	probably damaging	Het
Slc44a2	T	C	9: 21,259,918 (GRCm39)	I642T	possibly damaging	Het
Ston2	T	A	12: 91,614,627 (GRCm39)	T594S	probably damaging	Het
Szt2	T	C	4: 118,229,726 (GRCm39)	T2802A	unknown	Het
Tshz3	T	A	7: 36,469,504 (GRCm39)	Y498N	probably damaging	Het
Zfp280b	T	A	10: 75,875,603 (GRCm39)	I494N	probably damaging	Het
Zfp281	A	G	1: 136,554,567 (GRCm39)	Q515R	possibly damaging	Het

Other mutations in Cab39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Ad_memoriam	UTSW	1	85,776,092 (GRCm39)	missense	probably damaging	1.00
Forgetmenot	UTSW	1	85,746,176 (GRCm39)	nonsense	probably null
Recall	UTSW	1	85,776,098 (GRCm39)	missense	probably damaging	1.00
R0317:Cab39	UTSW	1	85,776,881 (GRCm39)	missense	probably damaging	1.00
R0383:Cab39	UTSW	1	85,765,020 (GRCm39)	missense	probably damaging	1.00
R0556:Cab39	UTSW	1	85,763,212 (GRCm39)	splice site	probably benign
R0612:Cab39	UTSW	1	85,746,236 (GRCm39)	critical splice donor site	probably null
R4598:Cab39	UTSW	1	85,776,050 (GRCm39)	missense	probably damaging	1.00
R4599:Cab39	UTSW	1	85,776,050 (GRCm39)	missense	probably damaging	1.00
R6170:Cab39	UTSW	1	85,746,176 (GRCm39)	nonsense	probably null
R6892:Cab39	UTSW	1	85,776,098 (GRCm39)	missense	probably damaging	1.00
R7230:Cab39	UTSW	1	85,775,880 (GRCm39)	splice site	probably null
R7287:Cab39	UTSW	1	85,746,182 (GRCm39)	missense	probably benign	0.00
R8236:Cab39	UTSW	1	85,776,092 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02