Mutagenetix > Incidental Mutation

Incidental Mutation 'R7674:Alkal1'

592346

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

045744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6429555-6464955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6459712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 96 (Y96F)

Ref Sequence

ENSEMBL: ENSMUSP00000137420 (fasta)

Gene Model

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

AlphaFold

J3QPP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000133144
AA Change: Y96F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137420
Gene: ENSMUSG00000087247
AA Change: Y96F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,123 (GRCm39)	I607F	probably damaging	Het
Abcc4	A	T	14: 118,848,899 (GRCm39)	D559E	probably damaging	Het
Abl1	T	C	2: 31,579,841 (GRCm39)	V8A	possibly damaging	Het
Asb3	T	A	11: 31,031,435 (GRCm39)	C352S	possibly damaging	Het
B4galnt3	G	T	6: 120,192,166 (GRCm39)	D523E	probably benign	Het
Cadps	C	A	14: 12,411,581 (GRCm38)	E1258D	probably damaging	Het
Carmil2	A	T	8: 106,423,918 (GRCm39)	Q1257L	possibly damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,911,491 (GRCm39)	A781E	probably benign	Het
Ccr10	A	T	11: 101,065,475 (GRCm39)	D18E	probably benign	Het
Cdcp1	C	A	9: 123,045,071 (GRCm39)		probably benign	Het
Ces5a	C	A	8: 94,240,897 (GRCm39)	R400L	probably damaging	Het
Clcn6	C	T	4: 148,097,151 (GRCm39)	V636M	probably damaging	Het
Cluh	T	A	11: 74,558,546 (GRCm39)	L1206H	probably damaging	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dok4	T	C	8: 95,593,190 (GRCm39)	Y165C	probably damaging	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Egr3	G	A	14: 70,315,526 (GRCm39)		probably null	Het
Elapor1	T	G	3: 108,370,307 (GRCm39)	R698S	probably damaging	Het
Elp1	T	C	4: 56,792,075 (GRCm39)	Q231R	probably damaging	Het
Evpl	T	C	11: 116,113,394 (GRCm39)	K1432R	probably benign	Het
Fbxw8	A	T	5: 118,263,036 (GRCm39)	C214*	probably null	Het
Gm45861	A	C	8: 28,030,147 (GRCm39)	Y821S	unknown	Het
Gm5519	G	C	19: 33,802,428 (GRCm39)	G157A	probably benign	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Kif14	C	T	1: 136,396,558 (GRCm39)	T288I	probably damaging	Het
Kpna3	A	T	14: 61,605,086 (GRCm39)	N520K	probably benign	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Lrp1b	T	A	2: 42,542,921 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,438,751 (GRCm39)	M70L	probably benign	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nipbl	C	T	15: 8,322,585 (GRCm39)	V2609I	probably benign	Het
Nucks1	C	A	1: 131,858,844 (GRCm39)	T202N	probably benign	Het
Or10al3	A	G	17: 38,011,573 (GRCm39)	N4S	probably benign	Het
Or4c127	A	T	2: 89,833,389 (GRCm39)	Y213F	probably damaging	Het
Or4e2	A	G	14: 52,687,899 (GRCm39)	T10A	probably benign	Het
Or5m12	A	C	2: 85,734,880 (GRCm39)	F173V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Plekha2	A	G	8: 25,547,314 (GRCm39)	S257P	probably damaging	Het
Pnlip	G	C	19: 58,663,586 (GRCm39)	G187A	possibly damaging	Het
Pramel22	T	A	4: 143,382,175 (GRCm39)	K174*	probably null	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rho	G	T	6: 115,909,294 (GRCm39)	C110F	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Srp72	A	T	5: 77,122,673 (GRCm39)	N35Y	probably damaging	Het
Tm2d2	C	A	8: 25,508,280 (GRCm39)	Y141*	probably null	Het
Tor3a	G	A	1: 156,483,478 (GRCm39)	H315Y	possibly damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r26	T	C	6: 124,016,321 (GRCm39)	W262R	probably benign	Het
Yipf7	A	T	5: 69,676,572 (GRCm39)	V189D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zc3h18	AGG	AG	8: 123,110,295 (GRCm39)		probably null	Het
Zfp930	A	T	8: 69,681,337 (GRCm39)	H344L	probably 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
R6474:Alkal1	UTSW	1	6,459,670 (GRCm39)	missense	probably damaging	1.00
R7641: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'- AGATCAAAGTGCACTGCCTCC -3'
(R):5'- CTAACCTTGTGCACTGAAAGG -3'

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

Posted On

2019-11-12