Mutagenetix > Incidental Mutation

Incidental Mutation 'R4061:Cab39l'

315877

Institutional Source

Beutler Lab

Gene Symbol

Cab39l

Ensembl Gene

ENSMUSG00000021981

Gene Name

calcium binding protein 39-like

Synonyms

2810425O13Rik, MO2L, 4930520C08Rik, 1500031K13Rik

MMRRC Submission

040852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59678400-59786353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59737056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 59 (K59E)

Ref Sequence

ENSEMBL: ENSMUSP00000153281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022553] [ENSMUST00000223678] [ENSMUST00000224893] [ENSMUST00000225595]

AlphaFold

Q9DB16

Predicted Effect

probably benign
Transcript: ENSMUST00000022553
AA Change: K59E

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022553
Gene: ENSMUSG00000021981
AA Change: K59E

Domain	Start	End	E-Value	Type
Pfam:Mo25	5	333	1.1e-142	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223678
AA Change: K59E

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224281

Predicted Effect

probably benign
Transcript: ENSMUST00000224893

Predicted Effect

probably benign
Transcript: ENSMUST00000225595
AA Change: K59E

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1076

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

94% (51/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Adam25	A	G	8: 41,206,819 (GRCm39)	I28M	possibly damaging	Het
Anks1b	A	G	10: 90,143,484 (GRCm39)	S464G	probably damaging	Het
AU040320	T	A	4: 126,729,488 (GRCm39)	M550K	probably damaging	Het
Cdc5l	C	T	17: 45,721,816 (GRCm39)	A485T	probably benign	Het
Csmd1	A	G	8: 15,995,158 (GRCm39)	S2626P	probably benign	Het
Ctss	C	T	3: 95,450,345 (GRCm39)	R99W	probably benign	Het
Deptor	A	T	15: 55,072,177 (GRCm39)	M219L	probably benign	Het
Disp1	A	G	1: 182,869,264 (GRCm39)	V1052A	probably damaging	Het
Esyt3	C	T	9: 99,202,891 (GRCm39)	S504N	probably damaging	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Folh1	T	A	7: 86,406,170 (GRCm39)	Y301F	possibly damaging	Het
Gm14443	G	A	2: 175,011,402 (GRCm39)	T348I	probably benign	Het
Gtpbp2	G	A	17: 46,478,253 (GRCm39)	R467H	probably damaging	Het
Hnrnpll	T	C	17: 80,340,201 (GRCm39)	H526R	probably benign	Het
Iars2	A	T	1: 185,035,583 (GRCm39)	H552Q	possibly damaging	Het
Il18r1	G	A	1: 40,514,096 (GRCm39)	V101I	probably benign	Het
Impdh2	A	G	9: 108,440,003 (GRCm39)	R182G	possibly damaging	Het
Krt12	A	T	11: 99,306,841 (GRCm39)	M487K	unknown	Het
Lmln	C	A	16: 32,886,761 (GRCm39)	Y89*	probably null	Het
Lrrc38	T	A	4: 143,077,076 (GRCm39)	L113Q	probably damaging	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Muc5ac	A	G	7: 141,364,867 (GRCm39)	D1947G	possibly damaging	Het
Myh13	A	T	11: 67,221,715 (GRCm39)	I177F	possibly damaging	Het
Nfasc	T	C	1: 132,525,583 (GRCm39)	Y904C	probably damaging	Het
Obscn	G	A	11: 58,899,358 (GRCm39)	P1000S	probably damaging	Het
Or52n4	T	A	7: 104,293,680 (GRCm39)	K298*	probably null	Het
Or5t7	T	A	2: 86,507,162 (GRCm39)	I172F	probably damaging	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Pclo	A	G	5: 14,590,580 (GRCm39)	E960G	unknown	Het
Plagl1	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC	10: 13,004,515 (GRCm39)		probably benign	Het
Prl7a1	T	C	13: 27,819,832 (GRCm39)	I141V	possibly damaging	Het
Ptpn18	A	T	1: 34,512,011 (GRCm39)	H45L	possibly damaging	Het
Sbno1	A	T	5: 124,526,635 (GRCm39)	M960K	probably damaging	Het
Slx4ip	T	A	2: 136,846,937 (GRCm39)	S67R	probably benign	Het
Spata18	A	G	5: 73,828,509 (GRCm39)	K243E	probably damaging	Het
Tcp1	A	G	17: 13,139,750 (GRCm39)	Q265R	probably benign	Het
Tec	C	T	5: 72,980,752 (GRCm39)		probably benign	Het
Thbs4	A	G	13: 92,912,605 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,549,177 (GRCm39)	Q635L	probably damaging	Het
Tshz2	A	G	2: 169,804,245 (GRCm39)		probably benign	Het
Uap1	T	C	1: 169,986,415 (GRCm39)	E189G	possibly damaging	Het
Usp21	G	A	1: 171,112,974 (GRCm39)		probably benign	Het
Vmn1r118	G	T	7: 20,645,933 (GRCm39)	Q114K	probably damaging	Het
Vmn1r38	A	T	6: 66,753,832 (GRCm39)	C95S	possibly damaging	Het
Vmn2r12	A	T	5: 109,240,058 (GRCm39)	N168K	possibly damaging	Het
Vmn2r84	T	A	10: 130,221,898 (GRCm39)	E774V	probably damaging	Het

Other mutations in Cab39l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Cab39l	APN	14	59,734,344 (GRCm39)	missense	probably damaging	1.00
IGL03135:Cab39l	APN	14	59,757,100 (GRCm39)	missense	probably benign
R0305:Cab39l	UTSW	14	59,757,028 (GRCm39)	nonsense	probably null
R0333:Cab39l	UTSW	14	59,737,060 (GRCm39)	missense	probably damaging	1.00
R0494:Cab39l	UTSW	14	59,737,008 (GRCm39)	missense	probably damaging	0.99
R1524:Cab39l	UTSW	14	59,757,186 (GRCm39)	splice site	probably benign
R4066:Cab39l	UTSW	14	59,784,454 (GRCm39)	missense	probably benign	0.00
R4542:Cab39l	UTSW	14	59,734,351 (GRCm39)	missense	probably benign	0.00
R4681:Cab39l	UTSW	14	59,737,054 (GRCm39)	missense	probably benign	0.00
R5217:Cab39l	UTSW	14	59,764,258 (GRCm39)	nonsense	probably null
R6196:Cab39l	UTSW	14	59,737,039 (GRCm39)	missense	probably damaging	1.00
R6427:Cab39l	UTSW	14	59,743,719 (GRCm39)	missense	possibly damaging	0.79
R7234:Cab39l	UTSW	14	59,734,395 (GRCm39)	critical splice donor site	probably null
R7828:Cab39l	UTSW	14	59,737,159 (GRCm39)	critical splice donor site	probably null
R8278:Cab39l	UTSW	14	59,776,562 (GRCm39)	missense	probably damaging	1.00
R8337:Cab39l	UTSW	14	59,776,640 (GRCm39)	missense	probably damaging	1.00
R8719:Cab39l	UTSW	14	59,734,314 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTTGATGACAAATGATAGGCCC -3'
(R):5'- TAGTCCTTTTAGGTAGGAAGGGAGAC -3'

Sequencing Primer
(F):5'- CCCAAGAATTGTGGATGTGTATC -3'
(R):5'- AGGGAGACTTCCATTATTTACTCTGG -3'

Posted On

2015-05-15