Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Aldh1l1'

250213

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l1

Ensembl Gene

ENSMUSG00000030088

Gene Name

aldehyde dehydrogenase 1 family, member L1

Synonyms

Fthfd, 1810048F20Rik

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90486427-90600203 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90598284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 851 (D851G)

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: D851G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: D851G

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: D851G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: D851G

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

noncoding transcript
Transcript: ENSMUST00000161447

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

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGAGGCAGATTCTGATC -3'
(R):5'- ACCAGCTGTGTTGATCAGTG -3'

Sequencing Primer
(F):5'- AGGCAGATTCTGATCTTGCC -3'
(R):5'- AGTGTGACACCCCAGTATTG -3'

Posted On

2014-11-12