Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Aldh1l1'

221634

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l1

Ensembl Gene

ENSMUSG00000030088

Gene Name

aldehyde dehydrogenase 1 family, member L1

Synonyms

Fthfd, 1810048F20Rik

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90486427-90600203 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90562665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 192 (P192L)

Ref Sequence

ENSEMBL: ENSMUSP00000145380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032175] [ENSMUST00000130418] [ENSMUST00000203111] [ENSMUST00000204796]

AlphaFold

Q8R0Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000032175
AA Change: P192L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: P192L

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

noncoding transcript
Transcript: ENSMUST00000127199

Predicted Effect

probably benign
Transcript: ENSMUST00000130418
AA Change: P192L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: P192L

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: ENSMUST00000203111

SMART Domains

Protein: ENSMUSP00000145233
Gene: ENSMUSG00000030088

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	4	135	4.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204796
AA Change: P192L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000145380
Gene: ENSMUSG00000030088
AA Change: P192L

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

0.0807

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,094		probably benign	Het
Abhd15	A	G	11: 77,518,338	T293A	probably benign	Het
Aldoart1	T	G	4: 72,852,542	I10L	probably benign	Het
Ankhd1	G	A	18: 36,645,113	G1653D	probably benign	Het
Ankk1	A	C	9: 49,419,364		probably null	Het
Astn1	A	G	1: 158,600,502	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,939,915	R52L	possibly damaging	Het
Ccdc151	T	G	9: 21,991,858	T419P	possibly damaging	Het
Ccdc33	G	A	9: 58,031,112	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644	S10P	probably damaging	Het
Cdc6	C	A	11: 98,910,461	F179L	probably benign	Het
Cdc7	T	A	5: 106,983,132	V491E	probably benign	Het
Cdh23	G	T	10: 60,596,730	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,037,755	H299R	probably benign	Het
Ciart	A	T	3: 95,878,701	M354K	probably benign	Het
Clasrp	G	T	7: 19,586,715		probably benign	Het
Col4a3	G	A	1: 82,696,319	G1132E	unknown	Het
Crebbp	G	A	16: 4,084,823	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,550,405	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492	R27M	probably null	Het
Ddhd2	A	G	8: 25,752,165	F116L	probably damaging	Het
Dgkd	G	A	1: 87,927,691	R685K	probably benign	Het
Dnah2	A	G	11: 69,524,240	S223P	probably benign	Het
Exph5	A	T	9: 53,372,679	R353S	possibly damaging	Het
F11	C	A	8: 45,252,118	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,459,397	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,587,207	I50T	probably damaging	Het
Fam20c	T	C	5: 138,756,227		probably null	Het
Fam234b	A	G	6: 135,226,914	T405A	probably benign	Het
Fbxo18	C	A	2: 11,762,970	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,762,313	Q132*	probably null	Het
Foxo6	T	C	4: 120,286,969	D95G	probably benign	Het
Ggt5	T	C	10: 75,604,087	F174S	probably damaging	Het
Gm7104	G	A	12: 88,285,781		noncoding transcript	Het
Gpr155	A	G	2: 73,373,633	L279P	probably damaging	Het
H2-T23	A	G	17: 36,032,191	L98P	probably damaging	Het
Heatr5a	A	G	12: 51,955,403	V250A	probably benign	Het
Heyl	A	T	4: 123,241,363	I50F	probably damaging	Het
Hist4h4	G	C	6: 136,804,103	R93G	possibly damaging	Het
Ifitm10	A	T	7: 142,356,034	S179R	probably damaging	Het
Isg15	A	T	4: 156,199,792	I93N	probably benign	Het
Itga10	G	A	3: 96,657,690	V985I	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Kcnt2	T	C	1: 140,375,154	I144T	probably benign	Het
Klk1	A	C	7: 44,229,034	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,933,442	R654L	probably damaging	Het
Lmod1	A	T	1: 135,364,387	M327L	probably benign	Het
Lonrf2	T	C	1: 38,807,050	E347G	probably benign	Het
Ltbp1	A	G	17: 75,276,432	Y409C	probably damaging	Het
Mecom	A	T	3: 29,980,592	Y312N	probably damaging	Het
Mrgprb3	C	T	7: 48,643,734	C23Y	possibly damaging	Het
Mut	A	G	17: 40,941,451	T295A	probably benign	Het
Nadk	C	A	4: 155,585,441	L194I	probably damaging	Het
Naxd	A	G	8: 11,509,510	I182V	probably benign	Het
Nbeal1	T	A	1: 60,319,687	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,529,521	R81L	possibly damaging	Het
Olfr1297	T	A	2: 111,621,814	R87W	probably benign	Het
Olfr1411	G	T	1: 92,596,969	R150L	probably benign	Het
Olfr957	A	T	9: 39,511,378	M114K	probably damaging	Het
Pcdh18	A	G	3: 49,754,940	V642A	probably benign	Het
Pdzk1	G	A	3: 96,855,848		probably benign	Het
Per3	C	T	4: 151,033,938	V233I	probably benign	Het
Pisd	G	A	5: 32,764,796	P267S	possibly damaging	Het
Prm1	T	A	16: 10,796,493		probably benign	Het
Ptprj	A	G	2: 90,463,095	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,673,367		probably benign	Het
Raver2	T	A	4: 101,102,812	V163D	probably damaging	Het
Rbm14	A	T	19: 4,803,877	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,718,126	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,272,863		probably benign	Het
Rpl28-ps4	T	A	6: 117,213,895		noncoding transcript	Het
Rsph10b	A	G	5: 143,967,250		probably null	Het
Rspo4	A	G	2: 151,873,093	K217E	unknown	Het
Scgb2b27	G	A	7: 34,013,285	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,111,435		probably benign	Het
Sec31b	T	C	19: 44,536,156	N101D	probably benign	Het
Sema6a	A	T	18: 47,306,429	C9*	probably null	Het
Sept5	A	C	16: 18,623,012	L331R	probably benign	Het
Slc16a11	C	A	11: 70,215,651	Y238*	probably null	Het
Slc25a12	T	C	2: 71,312,548	T210A	probably benign	Het
Slc35f1	A	T	10: 53,089,347	Y286F	probably damaging	Het
Szt2	A	T	4: 118,376,448	L2225*	probably null	Het
Thap12	T	C	7: 98,716,620	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,367,724	W237R	probably damaging	Het
Tyk2	T	C	9: 21,120,341	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,502,590	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 13,131,821	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,537,841	V821A	probably damaging	Het
Zfp689	C	A	7: 127,444,826	G211C	probably damaging	Het
Zfp827	A	G	8: 79,076,236	D479G	probably benign	Het
Zfp995	A	C	17: 21,880,594	F220V	probably damaging	Het

Other mutations in Aldh1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Aldh1l1	APN	6	90,598,380 (GRCm38)	missense	probably damaging	1.00
IGL01350:Aldh1l1	APN	6	90,559,356 (GRCm38)	missense	probably damaging	1.00
IGL01601:Aldh1l1	APN	6	90,591,841 (GRCm38)	missense	probably damaging	1.00
IGL01686:Aldh1l1	APN	6	90,559,233 (GRCm38)	splice site	probably benign
IGL01868:Aldh1l1	APN	6	90,583,230 (GRCm38)	nonsense	probably null
IGL01941:Aldh1l1	APN	6	90,562,695 (GRCm38)	missense	probably damaging	0.98
IGL01982:Aldh1l1	APN	6	90,559,863 (GRCm38)	missense	probably benign	0.00
IGL02088:Aldh1l1	APN	6	90,580,590 (GRCm38)	splice site	probably benign
IGL02159:Aldh1l1	APN	6	90,594,656 (GRCm38)	splice site	probably benign
IGL02450:Aldh1l1	APN	6	90,569,873 (GRCm38)	missense	probably benign	0.00
IGL02657:Aldh1l1	APN	6	90,590,794 (GRCm38)	missense	probably damaging	1.00
IGL02839:Aldh1l1	APN	6	90,569,875 (GRCm38)	missense	possibly damaging	0.95
R0149:Aldh1l1	UTSW	6	90,589,414 (GRCm38)	missense	possibly damaging	0.85
R0206:Aldh1l1	UTSW	6	90,569,866 (GRCm38)	missense	possibly damaging	0.88
R0206:Aldh1l1	UTSW	6	90,569,866 (GRCm38)	missense	possibly damaging	0.88
R0418:Aldh1l1	UTSW	6	90,569,893 (GRCm38)	missense	possibly damaging	0.49
R1121:Aldh1l1	UTSW	6	90,589,384 (GRCm38)	missense	probably benign
R1467:Aldh1l1	UTSW	6	90,571,928 (GRCm38)	missense	possibly damaging	0.90
R1467:Aldh1l1	UTSW	6	90,571,928 (GRCm38)	missense	possibly damaging	0.90
R1649:Aldh1l1	UTSW	6	90,564,389 (GRCm38)	missense	probably benign
R1793:Aldh1l1	UTSW	6	90,577,831 (GRCm38)	missense	possibly damaging	0.92
R2043:Aldh1l1	UTSW	6	90,557,332 (GRCm38)	missense	probably benign	0.05
R2229:Aldh1l1	UTSW	6	90,583,186 (GRCm38)	missense	probably damaging	1.00
R2426:Aldh1l1	UTSW	6	90,598,284 (GRCm38)	missense	probably damaging	0.99
R4109:Aldh1l1	UTSW	6	90,562,644 (GRCm38)	missense	probably benign	0.04
R4818:Aldh1l1	UTSW	6	90,596,915 (GRCm38)	missense	probably benign
R5214:Aldh1l1	UTSW	6	90,563,417 (GRCm38)	missense	probably damaging	1.00
R5285:Aldh1l1	UTSW	6	90,576,770 (GRCm38)	nonsense	probably null
R5426:Aldh1l1	UTSW	6	90,559,299 (GRCm38)	missense	probably benign
R5516:Aldh1l1	UTSW	6	90,596,945 (GRCm38)	missense	possibly damaging	0.95
R5970:Aldh1l1	UTSW	6	90,597,046 (GRCm38)	intron	probably benign
R6235:Aldh1l1	UTSW	6	90,564,457 (GRCm38)	missense	probably benign	0.44
R6322:Aldh1l1	UTSW	6	90,562,698 (GRCm38)	missense	probably benign	0.03
R7053:Aldh1l1	UTSW	6	90,563,438 (GRCm38)	missense	possibly damaging	0.50
R7125:Aldh1l1	UTSW	6	90,576,779 (GRCm38)	critical splice donor site	probably null
R7128:Aldh1l1	UTSW	6	90,563,379 (GRCm38)	missense	probably benign	0.23
R7142:Aldh1l1	UTSW	6	90,563,416 (GRCm38)	missense	probably damaging	1.00
R7203:Aldh1l1	UTSW	6	90,570,800 (GRCm38)	missense	probably benign	0.01
R7205:Aldh1l1	UTSW	6	90,598,275 (GRCm38)	missense	probably damaging	0.97
R7477:Aldh1l1	UTSW	6	90,598,387 (GRCm38)	critical splice donor site	probably null
R7669:Aldh1l1	UTSW	6	90,570,862 (GRCm38)	missense	probably benign
R7718:Aldh1l1	UTSW	6	90,598,323 (GRCm38)	missense	probably damaging	1.00
R7788:Aldh1l1	UTSW	6	90,569,912 (GRCm38)	missense	probably benign	0.20
R8438:Aldh1l1	UTSW	6	90,559,446 (GRCm38)	missense	probably damaging	1.00
R8922:Aldh1l1	UTSW	6	90,559,274 (GRCm38)	missense	probably damaging	1.00
R8969:Aldh1l1	UTSW	6	90,570,808 (GRCm38)	missense	probably benign
R9292:Aldh1l1	UTSW	6	90,591,885 (GRCm38)	missense	probably damaging	0.98
R9427:Aldh1l1	UTSW	6	90,559,921 (GRCm38)	missense	probably benign	0.06
R9560:Aldh1l1	UTSW	6	90,559,843 (GRCm38)	missense	probably damaging	1.00
R9771:Aldh1l1	UTSW	6	90,598,328 (GRCm38)	missense	probably benign	0.25
R9784:Aldh1l1	UTSW	6	90,564,442 (GRCm38)	missense	probably benign	0.07
RF007:Aldh1l1	UTSW	6	90,598,259 (GRCm38)	missense	probably damaging	0.99
Z1176:Aldh1l1	UTSW	6	90,583,173 (GRCm38)	missense	probably benign	0.11
Z1176:Aldh1l1	UTSW	6	90,557,284 (GRCm38)	frame shift	probably null
Z1177:Aldh1l1	UTSW	6	90,564,449 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATGGTCTGTGTGCCATTCCAC -3'
(R):5'- ATGCCTGAAGGGACCTTGTC -3'

Sequencing Primer
(F):5'- ACTCTCCCCAAATCCTGTCAC -3'
(R):5'- CACGTTTCGATGCTGTGC -3'

Posted On

2014-08-25