Mutagenetix > Incidental Mutation

Incidental Mutation 'R6474:Alkal1'

516717

Institutional Source

Beutler Lab

Gene Symbol

Alkal1

Ensembl Gene

ENSMUSG00000087247

Gene Name

ALK and LTK ligand 1

Synonyms

EG620393, Augbeta, Augmentor beta, Fam150a

MMRRC Submission

044607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R6474 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6429555-6464955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6459670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 82 (V82A)

Ref Sequence

ENSEMBL: ENSMUSP00000137420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133144]

AlphaFold

J3QPP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000133144
AA Change: V82A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137420
Gene: ENSMUSG00000087247
AA Change: V82A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:FAM150	47	126	4.4e-44	PFAM

Meta Mutation Damage Score

0.0839

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,914,359 (GRCm39)	N90Y	probably damaging	Het
Ascc3	T	C	10: 50,624,932 (GRCm39)	S1607P	probably benign	Het
Ccny	A	T	18: 9,345,427 (GRCm39)	L149H	probably damaging	Het
Clptm1	T	C	7: 19,369,762 (GRCm39)	N383D	possibly damaging	Het
Clrn2	T	A	5: 45,621,074 (GRCm39)	M156K	probably benign	Het
Coro2b	T	A	9: 62,333,910 (GRCm39)	H328L	probably benign	Het
Echs1	A	T	7: 139,688,055 (GRCm39)	M250K	probably benign	Het
Ecsit	A	G	9: 21,985,981 (GRCm39)	V145A	possibly damaging	Het
Fas	G	A	19: 34,293,969 (GRCm39)	G108D	probably damaging	Het
Folh1	A	G	7: 86,424,964 (GRCm39)	W2R	probably damaging	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Grik2	C	T	10: 49,008,776 (GRCm39)	M770I	probably benign	Het
Hcst	T	C	7: 30,117,250 (GRCm39)	N74S	probably damaging	Het
Hdac9	T	A	12: 34,481,990 (GRCm39)		probably null	Het
Hsfy2	T	A	1: 56,676,150 (GRCm39)	D129V	probably damaging	Het
Htt	T	C	5: 34,982,239 (GRCm39)	V941A	probably benign	Het
Naip5	A	G	13: 100,351,171 (GRCm39)	V1279A	possibly damaging	Het
Neb	T	A	2: 52,170,624 (GRCm39)	M1683L	probably benign	Het
Nudt21	C	T	8: 94,746,282 (GRCm39)	V139I	probably benign	Het
Or5e1	T	C	7: 108,354,236 (GRCm39)	Y58H	probably damaging	Het
Pex2	A	G	3: 5,626,191 (GRCm39)	F206S	probably damaging	Het
Plek2	C	A	12: 78,943,065 (GRCm39)	R77L	probably benign	Het
Ppfia1	A	T	7: 144,059,942 (GRCm39)	D623E	possibly damaging	Het
Ppm1l	T	A	3: 69,460,374 (GRCm39)	I317N	probably damaging	Het
Prkacb	T	A	3: 146,461,479 (GRCm39)	T36S	probably damaging	Het
Sphkap	T	A	1: 83,256,544 (GRCm39)	I115F	probably damaging	Het
Sprtn	G	T	8: 125,625,873 (GRCm39)	E95*	probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tcap	C	A	11: 98,275,003 (GRCm39)	Q46K	probably benign	Het
Thada	T	C	17: 84,751,339 (GRCm39)	I546V	possibly damaging	Het
Tubal3	T	A	13: 3,983,107 (GRCm39)	S296T	probably benign	Het
Ube3a	A	G	7: 58,936,772 (GRCm39)	N683D	probably damaging	Het
Vmn2r82	T	G	10: 79,214,871 (GRCm39)	L285V	possibly damaging	Het
Zfp871	T	C	17: 32,994,647 (GRCm39)	D157G	possibly damaging	Het

Other mutations in Alkal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1184:Alkal1	UTSW	1	6,459,712 (GRCm39)	missense	probably damaging	1.00
R2163:Alkal1	UTSW	1	6,459,736 (GRCm39)	missense	probably benign	0.02
R4222:Alkal1	UTSW	1	6,458,839 (GRCm39)	missense	probably damaging	0.99
R4488:Alkal1	UTSW	1	6,429,631 (GRCm39)	missense	probably benign	0.06
R7641:Alkal1	UTSW	1	6,459,712 (GRCm39)	missense	probably damaging	1.00
R7674:Alkal1	UTSW	1	6,459,712 (GRCm39)	missense	probably damaging	1.00
R7738:Alkal1	UTSW	1	6,459,728 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GATCAAAGTGCACTGCCTCC -3'
(R):5'- CTAACCTTGTGCACTGAAAGG -3'

Sequencing Primer
(F):5'- AAGTGCACTGCCTCCCACTG -3'
(R):5'- TGTGCACTGAAAGGTTATAAATAGC -3'

Posted On

2018-05-21