Mutagenetix > Incidental Mutation

Incidental Mutation 'R4066:Cab39l'

316129

Institutional Source

Beutler Lab

Gene Symbol

Cab39l

Ensembl Gene

ENSMUSG00000021981

Gene Name

calcium binding protein 39-like

Synonyms

2810425O13Rik, MO2L, 4930520C08Rik, 1500031K13Rik

MMRRC Submission

040973-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4066 (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 59784454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 285 (H285R)

Ref Sequence

ENSEMBL: ENSMUSP00000022553 (fasta)

Gene Model

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

AlphaFold

Q9DB16

Predicted Effect

probably benign
Transcript: ENSMUST00000022553
AA Change: H285R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022553
Gene: ENSMUSG00000021981
AA Change: H285R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225595

Meta Mutation Damage Score

0.1145

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	T	1: 63,602,584 (GRCm39)	H582L	probably damaging	Het
Ankrd13d	C	T	19: 4,320,388 (GRCm39)	A118T	probably benign	Het
Arhgap30	C	T	1: 171,235,891 (GRCm39)	T755I	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Dspp	T	A	5: 104,325,060 (GRCm39)	N474K	unknown	Het
Fanci	T	C	7: 79,062,505 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,918,542 (GRCm39)	I3526K	possibly damaging	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gm12258	C	T	11: 58,749,352 (GRCm39)	L176F	probably benign	Het
Gm8220	A	T	14: 44,523,095 (GRCm39)	R12*	probably null	Het
Hecw1	T	C	13: 14,491,016 (GRCm39)	S659G	probably damaging	Het
Hnrnpr	C	A	4: 136,066,657 (GRCm39)		probably benign	Het
Htt	C	T	5: 35,036,191 (GRCm39)	T2046I	probably benign	Het
Kat7	T	C	11: 95,174,967 (GRCm39)	D259G	possibly damaging	Het
Klra9	T	C	6: 130,165,707 (GRCm39)	T103A	probably benign	Het
Lad1	A	G	1: 135,755,165 (GRCm39)	E147G	probably damaging	Het
Lipo2	T	C	19: 33,698,259 (GRCm39)	I373V	probably benign	Het
Ltb4r1	G	T	14: 56,004,952 (GRCm39)	W85L	probably damaging	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Myl10	A	G	5: 136,724,304 (GRCm39)	K70E	probably damaging	Het
Nptx2	G	T	5: 144,493,122 (GRCm39)	W403L	probably damaging	Het
Nyap2	A	G	1: 81,219,550 (GRCm39)	Y524C	probably damaging	Het
Or4a72	T	A	2: 89,405,523 (GRCm39)	L182F	probably damaging	Het
Or6b2b	A	G	1: 92,418,911 (GRCm39)	C189R	probably damaging	Het
Or8b1	T	A	9: 38,399,778 (GRCm39)	M151K	probably benign	Het
Pde9a	A	G	17: 31,662,812 (GRCm39)	*64W	probably null	Het
Ppp2r5b	T	C	19: 6,279,360 (GRCm39)	Y379C	probably damaging	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Recql4	A	G	15: 76,590,027 (GRCm39)	Y673H	probably damaging	Het
Rnps1-ps	T	A	6: 7,983,009 (GRCm39)		noncoding transcript	Het
Shcbp1	A	G	8: 4,798,716 (GRCm39)	I401T	probably damaging	Het
Shd	A	T	17: 56,278,581 (GRCm39)	D48V	probably damaging	Het
Slc14a1	A	G	18: 78,154,592 (GRCm39)	W209R	probably damaging	Het
Slc2a9	T	C	5: 38,640,692 (GRCm39)	K6E	probably benign	Het
Slco6d1	A	G	1: 98,391,571 (GRCm39)		probably benign	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stau2	A	G	1: 16,464,283 (GRCm39)	S156P	possibly damaging	Het
Stmn2	T	C	3: 8,574,668 (GRCm39)		probably benign	Het
Togaram2	C	A	17: 72,023,233 (GRCm39)		probably benign	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Wdfy3	C	T	5: 102,070,313 (GRCm39)	V1152I	probably benign	Het
Xpo4	G	T	14: 57,825,511 (GRCm39)	H939N	probably benign	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
R4061:Cab39l	UTSW	14	59,737,056 (GRCm39)	missense	possibly damaging	0.64
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'- GCAGTGCTAAAGGCTGTTCC -3'
(R):5'- CACTGTACACACTGGGCAAG -3'

Sequencing Primer
(F):5'- TTCTCAGGGGAGGCTCTGC -3'
(R):5'- ACAAATGGCTGTCGGGGC -3'

Posted On

2015-05-15