Mutagenetix > Incidental Mutation

Incidental Mutation 'R7230:Cab39'

574582

Institutional Source

Beutler Lab

Gene Symbol

Cab39

Ensembl Gene

ENSMUSG00000036707

Gene Name

calcium binding protein 39

Synonyms

MO25alpha, 39kDa

MMRRC Submission

045302-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7230 (G1)

Quality Score

109.008

Status

Validated

Chromosome

Chromosomal Location

85721162-85779297 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 85775880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108987 (fasta)

Gene Model

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

AlphaFold

Q06138

Predicted Effect

probably null
Transcript: ENSMUST00000097666

SMART Domains

Protein: ENSMUSP00000095270
Gene: ENSMUSG00000036707

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

Predicted Effect

probably null
Transcript: ENSMUST00000113360

SMART Domains

Protein: ENSMUSP00000108987
Gene: ENSMUSG00000036707

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	C	7: 45,766,812 (GRCm39)	D989E	probably benign	Het
Adad1	A	G	3: 37,119,315 (GRCm39)	Y132C	probably damaging	Het
Adam33	A	T	2: 130,895,483 (GRCm39)	C579S	probably damaging	Het
Adam6a	A	C	12: 113,509,202 (GRCm39)	Q525P	probably damaging	Het
Alpk3	C	T	7: 80,743,042 (GRCm39)	P953L	probably damaging	Het
Arb2a	G	A	13: 77,907,591 (GRCm39)	E5K	probably damaging	Het
Atat1	A	G	17: 36,220,331 (GRCm39)	S54P	probably damaging	Het
Bpgm	A	G	6: 34,464,502 (GRCm39)	E73G	possibly damaging	Het
Ccdc162	A	G	10: 41,554,809 (GRCm39)	L285P	probably damaging	Het
Ccdc30	T	C	4: 119,196,979 (GRCm39)	E429G	possibly damaging	Het
Cct3	C	T	3: 88,220,567 (GRCm39)	R260W	probably damaging	Het
Chd1	C	A	17: 15,927,199 (GRCm39)		probably null	Het
Cxcr4	T	G	1: 128,517,527 (GRCm39)	T45P	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dlec1	T	G	9: 118,953,606 (GRCm39)		probably null	Het
Dram2	T	G	3: 106,480,294 (GRCm39)	Y202*	probably null	Het
Etl4	C	A	2: 20,802,799 (GRCm39)	T1035K	probably damaging	Het
F5	T	C	1: 164,012,522 (GRCm39)	F479L	probably benign	Het
Frrs1l	C	A	4: 56,972,372 (GRCm39)	G110W	probably damaging	Het
Gpbp1l1	T	A	4: 116,445,807 (GRCm39)	I303N	probably damaging	Het
Grik5	A	G	7: 24,722,495 (GRCm39)	F538S	probably damaging	Het
Hgsnat	C	A	8: 26,444,860 (GRCm39)		probably null	Het
Hs2st1	T	C	3: 144,140,307 (GRCm39)	D338G	probably benign	Het
Impdh1	T	C	6: 29,206,062 (GRCm39)		probably null	Het
Ipo9	T	C	1: 135,334,496 (GRCm39)		probably benign	Het
Kdm4b	T	G	17: 56,676,155 (GRCm39)	L220R	probably damaging	Het
Map1a	T	A	2: 121,131,299 (GRCm39)	F705Y	probably damaging	Het
Med22	C	T	2: 26,798,223 (GRCm39)	D99N	probably benign	Het
Muc6	T	C	7: 141,235,479 (GRCm39)	Y519C	probably damaging	Het
Myt1l	A	G	12: 29,833,873 (GRCm39)	I25M	probably damaging	Het
Ncam1	T	A	9: 49,421,123 (GRCm39)	I731F	probably benign	Het
Nlrp4f	T	A	13: 65,342,715 (GRCm39)	H310L	probably benign	Het
Or2ag1b	A	T	7: 106,288,731 (GRCm39)	M69K	possibly damaging	Het
Or2ag2b	C	A	7: 106,417,386 (GRCm39)	T32K	possibly damaging	Het
Or4f14	T	A	2: 111,742,906 (GRCm39)	Y123F	probably damaging	Het
Or4k40	A	T	2: 111,251,261 (GRCm39)	F12I	probably damaging	Het
Prl8a6	T	A	13: 27,617,021 (GRCm39)	Y223F	probably benign	Het
Prss39	A	G	1: 34,541,228 (GRCm39)	D244G	probably damaging	Het
Ptx4	A	T	17: 25,342,077 (GRCm39)	Q184L	possibly damaging	Het
Slc26a1	A	T	5: 108,819,611 (GRCm39)	D545E	probably damaging	Het
Slc7a12	T	C	3: 14,570,441 (GRCm39)	S398P	probably damaging	Het
Slc9a4	T	C	1: 40,639,931 (GRCm39)	V241A	probably damaging	Het
Snw1	T	C	12: 87,511,324 (GRCm39)	D109G	probably damaging	Het
Syne2	T	A	12: 75,980,674 (GRCm39)	I1477K	probably benign	Het
Timd4	A	T	11: 46,701,691 (GRCm39)	Y18F	probably benign	Het
Tmprss2	A	G	16: 97,379,797 (GRCm39)	Y168H	probably benign	Het
Ttn	A	T	2: 76,569,044 (GRCm39)	I27283K	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vasn	C	T	16: 4,467,486 (GRCm39)	R478C	probably benign	Het
Zfp58	A	T	13: 67,640,082 (GRCm39)	C136*	probably null	Het

Other mutations in Cab39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03233:Cab39	APN	1	85,770,044 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTGAGGAACCACTGCCGAAG -3'
(R):5'- TCTCAGGCTTGCTGATGTAC -3'

Sequencing Primer
(F):5'- ACCACTGCCGAAGAGTCAGTG -3'
(R):5'- CTCAGGCTTGCTGATGTACTTTGTC -3'

Posted On

2019-09-18