Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Aldh1l1'

302375

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

90486427-90600203 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90590794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 680 (L680P)

Ref Sequence

ENSEMBL: ENSMUSP00000114304 (fasta)

Gene Model

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

AlphaFold

Q8R0Y6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032175
AA Change: L680P

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

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: L680P

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 damaging
Transcript: ENSMUST00000130418
AA Change: L680P

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

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: L680P

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: ENSMUST00000137669

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	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
IGL02088:Aldh1l1	APN	6	90580590	splice site	probably benign
IGL02159:Aldh1l1	APN	6	90594656	splice site	probably benign
IGL02450:Aldh1l1	APN	6	90569873	missense	probably benign	0.00
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
R8922:Aldh1l1	UTSW	6	90559274	missense	probably damaging	1.00
R8969:Aldh1l1	UTSW	6	90570808	missense	probably benign
R9292:Aldh1l1	UTSW	6	90591885	missense	probably damaging	0.98
R9427:Aldh1l1	UTSW	6	90559921	missense	probably benign	0.06
R9560:Aldh1l1	UTSW	6	90559843	missense	probably damaging	1.00
R9771:Aldh1l1	UTSW	6	90598328	missense	probably benign	0.25
R9784:Aldh1l1	UTSW	6	90564442	missense	probably benign	0.07
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