Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02088:Aldh1l1'

279338

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh1l1

Ensembl Gene

ENSMUSG00000030088

Gene Name

aldehyde dehydrogenase 1 family, member L1

Synonyms

Fthfd, 1810048F20Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02088

Quality Score

Status

Chromosome

Chromosomal Location

90486427-90600203 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 90580590 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145380 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032175

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088

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

probably benign
Transcript: ENSMUST00000130418

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088

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

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

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	C	9: 104,098,881	E289G	probably damaging	Het
Ampd3	T	A	7: 110,793,686	D220E	probably benign	Het
Ank3	T	C	10: 69,999,373	V136A	probably damaging	Het
Atg14	T	C	14: 47,542,859	K486R	probably benign	Het
Axin1	A	G	17: 26,188,695	I637V	probably benign	Het
Axin2	T	A	11: 108,923,616	F110Y	probably damaging	Het
Cdh12	A	T	15: 21,480,339	K214*	probably null	Het
Cfap44	A	C	16: 44,451,628	E1248A	possibly damaging	Het
Cryba4	A	G	5: 112,251,009		probably benign	Het
Cyp2c68	A	G	19: 39,703,521		probably benign	Het
Dnah5	G	T	15: 28,459,118		probably null	Het
Dok3	A	T	13: 55,524,370	V165E	probably damaging	Het
Etl4	A	T	2: 20,806,548	R1147S	probably damaging	Het
Fam212a	A	G	9: 107,984,457	F220S	probably damaging	Het
Fbxl6	G	T	15: 76,535,906	C502*	probably null	Het
Gp2	A	T	7: 119,454,469	Y90N	probably damaging	Het
H1fnt	G	T	15: 98,257,178	T30K	probably damaging	Het
Itfg2	A	G	6: 128,411,606	V306A	probably benign	Het
Lrig2	T	C	3: 104,467,108	Y219C	probably damaging	Het
Mccc1	A	T	3: 35,974,202	I485N	probably damaging	Het
Mettl25	A	G	10: 105,823,250	F391L	probably damaging	Het
Muc19	C	T	15: 91,891,168		noncoding transcript	Het
Muc2	T	C	7: 141,751,504	C182R	probably damaging	Het
Nlrp4g	T	C	9: 124,350,453		noncoding transcript	Het
Nms	A	G	1: 38,939,277		probably benign	Het
Nr3c1	T	C	18: 39,424,391	N503S	probably damaging	Het
Olfr1495	T	C	19: 13,768,666	F108S	probably damaging	Het
Olfr186	A	G	16: 59,027,052	L285P	probably damaging	Het
Olfr828	C	T	9: 18,815,923	V124I	probably benign	Het
Pcdhb5	G	A	18: 37,321,959	S464N	probably benign	Het
Pcgf6	T	C	19: 47,050,804	T6A	unknown	Het
Rdx	A	G	9: 52,060,883		probably benign	Het
Shmt1	T	C	11: 60,789,653	T403A	probably damaging	Het
Slc35d1	A	G	4: 103,211,325	F148L	probably benign	Het
Tk1	A	G	11: 117,824,665		probably benign	Het
Tnks	T	A	8: 34,839,994	I1134F	possibly damaging	Het
Ttn	A	G	2: 76,726,691	V29990A	probably damaging	Het
Zcchc11	A	G	4: 108,512,218		probably benign	Het

Other mutations in Aldh1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Aldh1l1	APN	6	90598380	missense	probably damaging	1.00
IGL01350:Aldh1l1	APN	6	90559356	missense	probably damaging	1.00
IGL01601:Aldh1l1	APN	6	90591841	missense	probably damaging	1.00
IGL01686:Aldh1l1	APN	6	90559233	splice site	probably benign
IGL01868:Aldh1l1	APN	6	90583230	nonsense	probably null
IGL01941:Aldh1l1	APN	6	90562695	missense	probably damaging	0.98
IGL01982:Aldh1l1	APN	6	90559863	missense	probably benign	0.00
IGL02159:Aldh1l1	APN	6	90594656	splice site	probably benign
IGL02450:Aldh1l1	APN	6	90569873	missense	probably benign	0.00
IGL02657:Aldh1l1	APN	6	90590794	missense	probably damaging	1.00
IGL02839:Aldh1l1	APN	6	90569875	missense	possibly damaging	0.95
R0149:Aldh1l1	UTSW	6	90589414	missense	possibly damaging	0.85
R0206:Aldh1l1	UTSW	6	90569866	missense	possibly damaging	0.88
R0206:Aldh1l1	UTSW	6	90569866	missense	possibly damaging	0.88
R0418:Aldh1l1	UTSW	6	90569893	missense	possibly damaging	0.49
R1121:Aldh1l1	UTSW	6	90589384	missense	probably benign
R1467:Aldh1l1	UTSW	6	90571928	missense	possibly damaging	0.90
R1467:Aldh1l1	UTSW	6	90571928	missense	possibly damaging	0.90
R1649:Aldh1l1	UTSW	6	90564389	missense	probably benign
R1793:Aldh1l1	UTSW	6	90577831	missense	possibly damaging	0.92
R2043:Aldh1l1	UTSW	6	90557332	missense	probably benign	0.05
R2044:Aldh1l1	UTSW	6	90562665	missense	probably benign	0.00
R2229:Aldh1l1	UTSW	6	90583186	missense	probably damaging	1.00
R2426:Aldh1l1	UTSW	6	90598284	missense	probably damaging	0.99
R4109:Aldh1l1	UTSW	6	90562644	missense	probably benign	0.04
R4818:Aldh1l1	UTSW	6	90596915	missense	probably benign
R5214:Aldh1l1	UTSW	6	90563417	missense	probably damaging	1.00
R5285:Aldh1l1	UTSW	6	90576770	nonsense	probably null
R5426:Aldh1l1	UTSW	6	90559299	missense	probably benign
R5516:Aldh1l1	UTSW	6	90596945	missense	possibly damaging	0.95
R5970:Aldh1l1	UTSW	6	90597046	intron	probably benign
R6235:Aldh1l1	UTSW	6	90564457	missense	probably benign	0.44
R6322:Aldh1l1	UTSW	6	90562698	missense	probably benign	0.03
R7053:Aldh1l1	UTSW	6	90563438	missense	possibly damaging	0.50
R7125:Aldh1l1	UTSW	6	90576779	critical splice donor site	probably null
R7128:Aldh1l1	UTSW	6	90563379	missense	probably benign	0.23
R7142:Aldh1l1	UTSW	6	90563416	missense	probably damaging	1.00
R7203:Aldh1l1	UTSW	6	90570800	missense	probably benign	0.01
R7205:Aldh1l1	UTSW	6	90598275	missense	probably damaging	0.97
R7477:Aldh1l1	UTSW	6	90598387	critical splice donor site	probably null
R7669:Aldh1l1	UTSW	6	90570862	missense	probably benign
R7718:Aldh1l1	UTSW	6	90598323	missense	probably damaging	1.00
R7788:Aldh1l1	UTSW	6	90569912	missense	probably benign	0.20
R8438:Aldh1l1	UTSW	6	90559446	missense	probably damaging	1.00
RF007:Aldh1l1	UTSW	6	90598259	missense	probably damaging	0.99
Z1176:Aldh1l1	UTSW	6	90557284	frame shift	probably null
Z1176:Aldh1l1	UTSW	6	90583173	missense	probably benign	0.11
Z1177:Aldh1l1	UTSW	6	90564449	missense	probably benign	0.00

Posted On

2015-04-16