Mutagenetix > Incidental Mutation

Incidental Mutation 'R5737:Aldh1l2'

444587

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

D330038I09Rik

MMRRC Submission

043195-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83323314-83370004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83356189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 67 (D67V)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020497] [ENSMUST00000146640]

AlphaFold

Q8K009

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: D180V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: D180V

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	23	202	5e-46	PFAM
Pfam:Formyl_trans_C	226	330	1.3e-16	PFAM
Pfam:PP-binding	346	412	9.6e-7	PFAM
Pfam:Aldedh	451	919	3.4e-174	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138858

Predicted Effect

probably damaging
Transcript: ENSMUST00000146640
AA Change: D67V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: D67V

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	1	89	2.8e-30	PFAM
Pfam:Formyl_trans_C	113	217	1.1e-16	PFAM
Pfam:PP-binding	233	299	1.5e-8	PFAM
Pfam:Aldedh	338	806	8.5e-175	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,707,055 (GRCm39)	V78A	probably damaging	Het
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Ankfy1	T	A	11: 72,623,100 (GRCm39)	D253E	probably damaging	Het
Arhgap42	T	C	9: 9,059,069 (GRCm39)	K159R	probably damaging	Het
Atrnl1	C	T	19: 57,766,320 (GRCm39)	A1219V	possibly damaging	Het
Cacna1c	C	T	6: 118,718,893 (GRCm39)	V386I	probably damaging	Het
Cacna2d2	A	G	9: 107,403,946 (GRCm39)	T1015A	possibly damaging	Het
Cadps2	T	C	6: 23,328,804 (GRCm39)	M999V	probably benign	Het
Ccer1	A	T	10: 97,530,546 (GRCm39)	H403L	possibly damaging	Het
Cubn	A	T	2: 13,393,702 (GRCm39)	I1433N	probably damaging	Het
Dcbld2	T	C	16: 58,281,348 (GRCm39)	V531A	probably damaging	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Dnah3	T	C	7: 119,658,421 (GRCm39)	K920R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dscaml1	C	T	9: 45,656,483 (GRCm39)	R1608C	probably damaging	Het
Gtf3c2	A	G	5: 31,325,593 (GRCm39)		probably null	Het
Heca	A	T	10: 17,791,462 (GRCm39)	M198K	possibly damaging	Het
Igkv8-24	A	T	6: 70,194,122 (GRCm39)	S29T	probably benign	Het
Lipo2	A	C	19: 33,699,096 (GRCm39)	N311K	probably damaging	Het
Lmo7	T	G	14: 102,124,672 (GRCm39)	I266S	probably damaging	Het
Naip2	T	A	13: 100,298,362 (GRCm39)	E558V	probably benign	Het
Nelfa	T	A	5: 34,056,457 (GRCm39)		probably null	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Psmg2	T	C	18: 67,779,107 (GRCm39)	S92P	possibly damaging	Het
Rasa2	C	T	9: 96,452,718 (GRCm39)		probably null	Het
Slc6a3	A	C	13: 73,692,923 (GRCm39)	N181T	probably damaging	Het
Tdrd5	A	G	1: 156,128,294 (GRCm39)	M136T	probably benign	Het
Tmem178b	A	C	6: 40,222,575 (GRCm39)	M97L	possibly damaging	Het
Tnfaip8l1	A	G	17: 56,478,950 (GRCm39)	D80G	probably benign	Het
Tomt	T	C	7: 101,549,524 (GRCm39)	T255A	probably benign	Het
Uqcc5	A	G	14: 30,850,676 (GRCm39)	I22T	probably benign	Het
Vmn2r26	G	T	6: 124,016,408 (GRCm39)	V291F	probably benign	Het

Other mutations in Aldh1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Aldh1l2	APN	10	83,358,750 (GRCm39)	nonsense	probably null
IGL01154:Aldh1l2	APN	10	83,356,237 (GRCm39)	missense	probably damaging	1.00
IGL01301:Aldh1l2	APN	10	83,358,710 (GRCm39)	missense	probably damaging	1.00
IGL01354:Aldh1l2	APN	10	83,363,240 (GRCm39)	missense	probably damaging	1.00
IGL01364:Aldh1l2	APN	10	83,328,531 (GRCm39)	missense	probably damaging	1.00
IGL01445:Aldh1l2	APN	10	83,356,126 (GRCm39)	splice site	probably benign
IGL02179:Aldh1l2	APN	10	83,358,701 (GRCm39)	missense	probably benign	0.10
IGL02283:Aldh1l2	APN	10	83,331,759 (GRCm39)	missense	probably benign	0.00
IGL02507:Aldh1l2	APN	10	83,328,448 (GRCm39)	nonsense	probably null
IGL02727:Aldh1l2	APN	10	83,342,469 (GRCm39)	missense	probably damaging	1.00
IGL03353:Aldh1l2	APN	10	83,358,777 (GRCm39)	missense	probably benign	0.17
Hunger_winter	UTSW	10	83,343,877 (GRCm39)	critical splice donor site	probably null
Spartan	UTSW	10	83,348,170 (GRCm39)	missense	possibly damaging	0.93
ANU18:Aldh1l2	UTSW	10	83,358,710 (GRCm39)	missense	probably damaging	1.00
IGL02984:Aldh1l2	UTSW	10	83,363,199 (GRCm39)	missense	probably damaging	1.00
R0267:Aldh1l2	UTSW	10	83,358,551 (GRCm39)	splice site	probably benign
R0302:Aldh1l2	UTSW	10	83,356,229 (GRCm39)	missense	probably damaging	1.00
R0349:Aldh1l2	UTSW	10	83,326,478 (GRCm39)	missense	probably damaging	1.00
R0468:Aldh1l2	UTSW	10	83,354,542 (GRCm39)	missense	probably benign	0.01
R0745:Aldh1l2	UTSW	10	83,354,494 (GRCm39)	splice site	probably null
R0788:Aldh1l2	UTSW	10	83,352,028 (GRCm39)	missense	probably damaging	1.00
R1117:Aldh1l2	UTSW	10	83,344,487 (GRCm39)	missense	probably benign	0.01
R1241:Aldh1l2	UTSW	10	83,331,889 (GRCm39)	missense	probably benign	0.00
R1420:Aldh1l2	UTSW	10	83,331,799 (GRCm39)	missense	probably damaging	1.00
R1490:Aldh1l2	UTSW	10	83,356,234 (GRCm39)	missense	probably damaging	1.00
R1704:Aldh1l2	UTSW	10	83,344,524 (GRCm39)	missense	probably benign	0.10
R1729:Aldh1l2	UTSW	10	83,343,946 (GRCm39)	nonsense	probably null
R1893:Aldh1l2	UTSW	10	83,328,400 (GRCm39)	missense	probably damaging	1.00
R1897:Aldh1l2	UTSW	10	83,338,389 (GRCm39)	missense	probably damaging	1.00
R2047:Aldh1l2	UTSW	10	83,342,607 (GRCm39)	missense	probably damaging	1.00
R2290:Aldh1l2	UTSW	10	83,363,177 (GRCm39)	missense	probably damaging	1.00
R3054:Aldh1l2	UTSW	10	83,338,336 (GRCm39)	missense	probably benign	0.14
R3055:Aldh1l2	UTSW	10	83,338,336 (GRCm39)	missense	probably benign	0.14
R4097:Aldh1l2	UTSW	10	83,348,228 (GRCm39)	missense	probably damaging	0.98
R4162:Aldh1l2	UTSW	10	83,342,518 (GRCm39)	missense	possibly damaging	0.50
R4295:Aldh1l2	UTSW	10	83,331,784 (GRCm39)	missense	possibly damaging	0.62
R4296:Aldh1l2	UTSW	10	83,358,641 (GRCm39)	missense	probably benign	0.34
R4388:Aldh1l2	UTSW	10	83,349,486 (GRCm39)	missense	probably damaging	1.00
R4809:Aldh1l2	UTSW	10	83,342,496 (GRCm39)	missense	probably damaging	1.00
R5052:Aldh1l2	UTSW	10	83,344,556 (GRCm39)	missense	possibly damaging	0.92
R5421:Aldh1l2	UTSW	10	83,363,271 (GRCm39)	missense	probably damaging	1.00
R5491:Aldh1l2	UTSW	10	83,358,649 (GRCm39)	missense	probably benign	0.00
R5688:Aldh1l2	UTSW	10	83,337,789 (GRCm39)	missense	possibly damaging	0.93
R5726:Aldh1l2	UTSW	10	83,348,170 (GRCm39)	missense	possibly damaging	0.93
R5752:Aldh1l2	UTSW	10	83,356,244 (GRCm39)	missense	probably damaging	1.00
R6113:Aldh1l2	UTSW	10	83,343,998 (GRCm39)	nonsense	probably null
R6161:Aldh1l2	UTSW	10	83,356,202 (GRCm39)	missense	probably benign	0.00
R6166:Aldh1l2	UTSW	10	83,329,288 (GRCm39)	splice site	probably null
R6189:Aldh1l2	UTSW	10	83,343,877 (GRCm39)	critical splice donor site	probably null
R7357:Aldh1l2	UTSW	10	83,350,408 (GRCm39)	missense	possibly damaging	0.89
R7394:Aldh1l2	UTSW	10	83,338,321 (GRCm39)	missense	probably damaging	1.00
R7469:Aldh1l2	UTSW	10	83,343,969 (GRCm39)	missense	probably damaging	1.00
R7676:Aldh1l2	UTSW	10	83,343,975 (GRCm39)	missense	probably benign
R7848:Aldh1l2	UTSW	10	83,335,707 (GRCm39)	missense	probably benign	0.12
R7958:Aldh1l2	UTSW	10	83,356,202 (GRCm39)	missense	probably benign	0.00
R8311:Aldh1l2	UTSW	10	83,326,479 (GRCm39)	missense	probably damaging	1.00
R8477:Aldh1l2	UTSW	10	83,337,785 (GRCm39)	missense	probably damaging	1.00
R8730:Aldh1l2	UTSW	10	83,342,506 (GRCm39)	missense	possibly damaging	0.94
R8884:Aldh1l2	UTSW	10	83,344,541 (GRCm39)	missense	probably benign	0.02
R9117:Aldh1l2	UTSW	10	83,342,545 (GRCm39)	missense	probably benign	0.41
R9239:Aldh1l2	UTSW	10	83,342,496 (GRCm39)	missense	probably damaging	1.00
R9335:Aldh1l2	UTSW	10	83,342,510 (GRCm39)	missense	probably damaging	0.96
R9368:Aldh1l2	UTSW	10	83,331,816 (GRCm39)	nonsense	probably null
R9784:Aldh1l2	UTSW	10	83,342,614 (GRCm39)	critical splice acceptor site	probably null
Z1177:Aldh1l2	UTSW	10	83,369,869 (GRCm39)	missense	probably benign
Z1177:Aldh1l2	UTSW	10	83,329,344 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCACAGACTTTCAAGCTCC -3'
(R):5'- TAGGCCACTATCTGCGTTTG -3'

Sequencing Primer
(F):5'- GCTCCAATTTACATTACAGCCATGTG -3'
(R):5'- GCGTTTGCAATGTAACCTCC -3'

Posted On

2016-11-21