Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Aldh1l1'

552454

Institutional Source

Beutler Lab

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 #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90486427-90600203 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90563379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 215 (Q215H)

Ref Sequence

ENSEMBL: ENSMUSP00000032175 (fasta)

Gene Model

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

AlphaFold

Q8R0Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000032175
AA Change: Q215H

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: Q215H

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
AA Change: Q215H

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: Q215H

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: Q215H

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145380
Gene: ENSMUSG00000030088
AA Change: Q215H

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,716,481	T1871A	possibly damaging	Het
Adgb	T	C	10: 10,472,241	D25G	probably benign	Het
Ak9	T	C	10: 41,424,717	V1641A	unknown	Het
Akap2	T	C	4: 57,855,816	S382P	probably benign	Het
Akirin2	T	C	4: 34,562,435	I118T	probably benign	Het
Arhgef26	T	C	3: 62,419,550	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,645,747	R93*	probably null	Het
AW822073	T	C	10: 58,223,657	Q425R	unknown	Het
Catsper3	A	G	13: 55,798,849	I120V	probably benign	Het
Cavin2	A	G	1: 51,289,420	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,684,991	F39Y	probably damaging	Het
Chfr	T	C	5: 110,143,636	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Defb4	T	A	8: 19,201,204	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,527,485	T619A	probably benign	Het
Emc3	A	G	6: 113,517,920	L179P	probably damaging	Het
Eno3	G	C	11: 70,658,604	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,970,722	V43M	probably damaging	Het
Fam159a	G	T	4: 108,367,903	T154K	probably benign	Het
Fbxo30	T	A	10: 11,290,116	L194*	probably null	Het
Galnt14	T	C	17: 73,545,101	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601	I51T	probably benign	Het
Gm1527	C	T	3: 28,915,311	S270F	possibly damaging	Het
Gm3336	A	G	8: 70,718,554	M1V	probably null	Het
Gm4744	T	C	6: 40,950,376	D15G		Het
Gm4763	C	T	7: 24,725,999		probably null	Het
Gm4924	G	A	10: 82,378,699	C777Y	unknown	Het
Gm5901	G	A	7: 105,378,201	G306S	probably damaging	Het
Gon4l	T	A	3: 88,895,692	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,310,457	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,328,905	E1285G	probably benign	Het
Irx6	T	C	8: 92,677,366	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,272,088	Y117H	probably benign	Het
Itln1	C	A	1: 171,530,575	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,738,523	S242P	probably benign	Het
Lrrk2	A	G	15: 91,801,885	H2143R	probably benign	Het
Lynx1	G	A	15: 74,751,549	R50*	probably null	Het
Map10	A	G	8: 125,671,853	I662V	probably benign	Het
Mlxipl	T	C	5: 135,133,851	L691P	probably damaging	Het
Muc16	A	G	9: 18,643,004	S3998P	unknown	Het
Nalcn	A	T	14: 123,594,502	V120E	probably damaging	Het
Nfat5	T	C	8: 107,358,691	S539P	probably benign	Het
Olfml3	T	C	3: 103,737,168	M62V	probably benign	Het
Orm3	T	C	4: 63,357,825	V158A	probably benign	Het
Pced1b	A	T	15: 97,384,598	K173*	probably null	Het
Pdzd7	T	C	19: 45,027,949	D911G	probably damaging	Het
Pkn3	A	G	2: 30,083,315	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,797,554	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,731,403	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,624,537	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,927,984	N30S	probably benign	Het
Slfn3	T	A	11: 83,214,895	C573S	probably benign	Het
Smc6	A	G	12: 11,301,631	E887G	probably damaging	Het
Sp140	A	T	1: 85,620,125	D191V	possibly damaging	Het
Srf	C	T	17: 46,555,446	S128N	possibly damaging	Het
Sult6b1	T	C	17: 78,894,641	D144G	probably damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Syt10	A	T	15: 89,814,111	D343E	probably damaging	Het
Tgtp2	G	A	11: 49,059,308	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,430,634		probably benign	Het
Tnfrsf1a	A	T	6: 125,361,536	T337S	probably benign	Het
Tns1	A	T	1: 73,995,304	I144N		Het
Trim11	A	G	11: 58,978,277	E13G	probably damaging	Het
Trpm6	A	T	19: 18,811,773	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,746,088	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,843,951	N169K	probably damaging	Het
Vmn2r60	C	T	7: 42,195,112	T633I	probably damaging	Het
Wt1	T	C	2: 105,127,325	Y177H	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
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
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'- CCATTCTACAGGCTGTGCAG -3'
(R):5'- TGGTACAGGGTCTCCTAGTC -3'

Sequencing Primer
(F):5'- CTGTGCAGGGAGAGAACTC -3'
(R):5'- TACAGGGTCTCCTAGTCCTGGAG -3'

Posted On

2019-05-15