Mutagenetix > Incidental Mutation

Incidental Mutation 'R0206:Aldh1l1'

66381

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l1

Ensembl Gene

ENSMUSG00000030088

Gene Name

aldehyde dehydrogenase 1 family, member L1

Synonyms

Fthfd, 1810048F20Rik

MMRRC Submission

038459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0206 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

90527751-90576153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90546848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 384 (F384L)

Ref Sequence

ENSEMBL: ENSMUSP00000114304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032175] [ENSMUST00000130418] [ENSMUST00000204796]

AlphaFold

Q8R0Y6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032175
AA Change: F384L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: F384L

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	1	180	6.9e-53	PFAM
Pfam:Formyl_trans_C	204	310	4e-18	PFAM
Pfam:PP-binding	325	391	3.7e-6	PFAM
Pfam:Aldedh	430	898	1.3e-175	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130418
AA Change: F384L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: F384L

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	1	180	7.4e-54	PFAM
Pfam:Formyl_trans_C	204	310	2.6e-18	PFAM
Pfam:Aldedh	430	898	1.7e-175	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152436

Predicted Effect

probably benign
Transcript: ENSMUST00000204796

SMART Domains

Protein: ENSMUSP00000145380
Gene: ENSMUSG00000030088

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	1	180	3e-53	PFAM
Pfam:Formyl_trans_C	204	310	1.5e-17	PFAM

Meta Mutation Damage Score

0.4441

Coding Region Coverage

1x: 95.8%
3x: 87.0%
10x: 38.5%
20x: 5.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,470,486 (GRCm39)	T165I	probably benign	Het
Adam26a	A	C	8: 44,023,455 (GRCm39)	F12V	possibly damaging	Het
Cit	A	T	5: 116,132,089 (GRCm39)	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Gm20441	A	G	10: 75,608,719 (GRCm39)	M1T	probably null	Het
Inhca	A	G	9: 103,159,861 (GRCm39)	C5R	probably damaging	Het
Inpp5k	T	C	11: 75,521,969 (GRCm39)	I15T	probably benign	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Me3	A	T	7: 89,498,868 (GRCm39)	T483S	probably benign	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Mxra8	T	A	4: 155,927,053 (GRCm39)	I329N	probably damaging	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Myom1	T	C	17: 71,344,292 (GRCm39)	S266P	probably damaging	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Or52b1	A	T	7: 104,979,090 (GRCm39)	M103K	possibly damaging	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or6f1	T	C	7: 85,970,854 (GRCm39)	Y102C	probably benign	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Zkscan1	T	A	5: 138,099,448 (GRCm39)	C391S	probably damaging	Het

Other mutations in Aldh1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Aldh1l1	APN	6	90,575,362 (GRCm39)	missense	probably damaging	1.00
IGL01350:Aldh1l1	APN	6	90,536,338 (GRCm39)	missense	probably damaging	1.00
IGL01601:Aldh1l1	APN	6	90,568,823 (GRCm39)	missense	probably damaging	1.00
IGL01686:Aldh1l1	APN	6	90,536,215 (GRCm39)	splice site	probably benign
IGL01868:Aldh1l1	APN	6	90,560,212 (GRCm39)	nonsense	probably null
IGL01941:Aldh1l1	APN	6	90,539,677 (GRCm39)	missense	probably damaging	0.98
IGL01982:Aldh1l1	APN	6	90,536,845 (GRCm39)	missense	probably benign	0.00
IGL02088:Aldh1l1	APN	6	90,557,572 (GRCm39)	splice site	probably benign
IGL02159:Aldh1l1	APN	6	90,571,638 (GRCm39)	splice site	probably benign
IGL02450:Aldh1l1	APN	6	90,546,855 (GRCm39)	missense	probably benign	0.00
IGL02657:Aldh1l1	APN	6	90,567,776 (GRCm39)	missense	probably damaging	1.00
IGL02839:Aldh1l1	APN	6	90,546,857 (GRCm39)	missense	possibly damaging	0.95
R0149:Aldh1l1	UTSW	6	90,566,396 (GRCm39)	missense	possibly damaging	0.85
R0206:Aldh1l1	UTSW	6	90,546,848 (GRCm39)	missense	possibly damaging	0.88
R0418:Aldh1l1	UTSW	6	90,546,875 (GRCm39)	missense	possibly damaging	0.49
R1121:Aldh1l1	UTSW	6	90,566,366 (GRCm39)	missense	probably benign
R1467:Aldh1l1	UTSW	6	90,548,910 (GRCm39)	missense	possibly damaging	0.90
R1467:Aldh1l1	UTSW	6	90,548,910 (GRCm39)	missense	possibly damaging	0.90
R1649:Aldh1l1	UTSW	6	90,541,371 (GRCm39)	missense	probably benign
R1793:Aldh1l1	UTSW	6	90,554,813 (GRCm39)	missense	possibly damaging	0.92
R2043:Aldh1l1	UTSW	6	90,534,314 (GRCm39)	missense	probably benign	0.05
R2044:Aldh1l1	UTSW	6	90,539,647 (GRCm39)	missense	probably benign	0.00
R2229:Aldh1l1	UTSW	6	90,560,168 (GRCm39)	missense	probably damaging	1.00
R2426:Aldh1l1	UTSW	6	90,575,266 (GRCm39)	missense	probably damaging	0.99
R4109:Aldh1l1	UTSW	6	90,539,626 (GRCm39)	missense	probably benign	0.04
R4818:Aldh1l1	UTSW	6	90,573,897 (GRCm39)	missense	probably benign
R5214:Aldh1l1	UTSW	6	90,540,399 (GRCm39)	missense	probably damaging	1.00
R5285:Aldh1l1	UTSW	6	90,553,752 (GRCm39)	nonsense	probably null
R5426:Aldh1l1	UTSW	6	90,536,281 (GRCm39)	missense	probably benign
R5516:Aldh1l1	UTSW	6	90,573,927 (GRCm39)	missense	possibly damaging	0.95
R5970:Aldh1l1	UTSW	6	90,574,028 (GRCm39)	intron	probably benign
R6235:Aldh1l1	UTSW	6	90,541,439 (GRCm39)	missense	probably benign	0.44
R6322:Aldh1l1	UTSW	6	90,539,680 (GRCm39)	missense	probably benign	0.03
R7053:Aldh1l1	UTSW	6	90,540,420 (GRCm39)	missense	possibly damaging	0.50
R7125:Aldh1l1	UTSW	6	90,553,761 (GRCm39)	critical splice donor site	probably null
R7128:Aldh1l1	UTSW	6	90,540,361 (GRCm39)	missense	probably benign	0.23
R7142:Aldh1l1	UTSW	6	90,540,398 (GRCm39)	missense	probably damaging	1.00
R7203:Aldh1l1	UTSW	6	90,547,782 (GRCm39)	missense	probably benign	0.01
R7205:Aldh1l1	UTSW	6	90,575,257 (GRCm39)	missense	probably damaging	0.97
R7477:Aldh1l1	UTSW	6	90,575,369 (GRCm39)	critical splice donor site	probably null
R7669:Aldh1l1	UTSW	6	90,547,844 (GRCm39)	missense	probably benign
R7718:Aldh1l1	UTSW	6	90,575,305 (GRCm39)	missense	probably damaging	1.00
R7788:Aldh1l1	UTSW	6	90,546,894 (GRCm39)	missense	probably benign	0.20
R8438:Aldh1l1	UTSW	6	90,536,428 (GRCm39)	missense	probably damaging	1.00
R8922:Aldh1l1	UTSW	6	90,536,256 (GRCm39)	missense	probably damaging	1.00
R8969:Aldh1l1	UTSW	6	90,547,790 (GRCm39)	missense	probably benign
R9292:Aldh1l1	UTSW	6	90,568,867 (GRCm39)	missense	probably damaging	0.98
R9427:Aldh1l1	UTSW	6	90,536,903 (GRCm39)	missense	probably benign	0.06
R9560:Aldh1l1	UTSW	6	90,536,825 (GRCm39)	missense	probably damaging	1.00
R9771:Aldh1l1	UTSW	6	90,575,310 (GRCm39)	missense	probably benign	0.25
R9784:Aldh1l1	UTSW	6	90,541,424 (GRCm39)	missense	probably benign	0.07
RF007:Aldh1l1	UTSW	6	90,575,241 (GRCm39)	missense	probably damaging	0.99
Z1176:Aldh1l1	UTSW	6	90,560,155 (GRCm39)	missense	probably benign	0.11
Z1176:Aldh1l1	UTSW	6	90,534,266 (GRCm39)	frame shift	probably null
Z1177:Aldh1l1	UTSW	6	90,541,431 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2013-08-19