Mutagenetix > Incidental Mutation

Incidental Mutation 'R7203:Aldh1l1'

560772

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l1

Ensembl Gene

ENSMUSG00000030088

Gene Name

aldehyde dehydrogenase 1 family, member L1

Synonyms

Fthfd, 1810048F20Rik

MMRRC Submission

045281-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7203 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90527751-90576153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90547782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 414 (K414R)

Ref Sequence

ENSEMBL: ENSMUSP00000032175 (fasta)

Gene Model

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

AlphaFold

Q8R0Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000032175
AA Change: K414R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: K414R

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: K414R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: K414R

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (108/108)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,317 (GRCm39)	V184A	probably benign	Het
Aars2	A	G	17: 45,827,497 (GRCm39)	Y513C	probably damaging	Het
Ackr2	G	A	9: 121,738,033 (GRCm39)	C136Y	probably damaging	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Atp10a	G	T	7: 58,436,221 (GRCm39)	R337L	probably benign	Het
Atp6v1g3	A	T	1: 138,215,538 (GRCm39)	Q66L	probably damaging	Het
Atp7b	A	T	8: 22,487,351 (GRCm39)	N1321K	probably damaging	Het
Axdnd1	A	T	1: 156,209,959 (GRCm39)	M437K	probably damaging	Het
Bap1	C	A	14: 30,976,126 (GRCm39)	P147Q	probably damaging	Het
Bicd1	C	T	6: 149,414,403 (GRCm39)	T372I	possibly damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Btrc	A	G	19: 45,501,967 (GRCm39)		probably null	Het
C130050O18Rik	A	C	5: 139,400,129 (GRCm39)	I61L	probably benign	Het
Cfap161	A	G	7: 83,425,258 (GRCm39)	S278P	probably damaging	Het
Cgnl1	T	C	9: 71,631,815 (GRCm39)	D512G	possibly damaging	Het
Chat	T	C	14: 32,141,014 (GRCm39)	D461G	probably damaging	Het
Chl1	T	A	6: 103,668,635 (GRCm39)	V456D	probably benign	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Cubn	T	G	2: 13,355,814 (GRCm39)	H1806P	probably benign	Het
Dapk1	T	A	13: 60,844,149 (GRCm39)	V56E	possibly damaging	Het
Dennd4a	A	G	9: 64,803,756 (GRCm39)	N1032D	probably benign	Het
Dlg5	T	A	14: 24,188,723 (GRCm39)	E1756V	probably damaging	Het
Dnah1	T	C	14: 30,996,339 (GRCm39)	T2666A	probably benign	Het
Dnah11	A	T	12: 118,009,257 (GRCm39)	I2135N	possibly damaging	Het
Dnah6	T	A	6: 73,150,528 (GRCm39)	E745V	probably benign	Het
Dock8	A	T	19: 25,158,927 (GRCm39)	N1695I	probably damaging	Het
Esf1	C	T	2: 140,006,139 (GRCm39)	R336Q	possibly damaging	Het
Fam161a	A	G	11: 22,971,664 (GRCm39)		probably null	Het
Fam89a	T	C	8: 125,478,418 (GRCm39)	E44G	possibly damaging	Het
Fndc3b	A	T	3: 27,510,634 (GRCm39)	D829E	probably benign	Het
Fxr1	C	T	3: 34,100,689 (GRCm39)	T125I	possibly damaging	Het
Gfer	T	C	17: 24,914,836 (GRCm39)	D69G	probably damaging	Het
Gpatch2l	T	A	12: 86,335,711 (GRCm39)	S471T	probably benign	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gsn	A	G	2: 35,188,807 (GRCm39)	I447V	probably benign	Het
H2al2c	C	T	Y: 2,599,234 (GRCm39)	L46F	possibly damaging	Het
Hao2	A	C	3: 98,784,598 (GRCm39)		probably null	Het
Ifitm10	T	C	7: 141,882,305 (GRCm39)	E155G	probably benign	Het
Igkv8-16	C	A	6: 70,363,794 (GRCm39)	W76L	probably benign	Het
Igsf21	A	T	4: 139,834,648 (GRCm39)	F75I	possibly damaging	Het
Ints14	T	A	9: 64,871,701 (GRCm39)	M13K	probably damaging	Het
Ipmk	A	T	10: 71,199,298 (GRCm39)	D53V	possibly damaging	Het
Iqcn	A	T	8: 71,169,597 (GRCm39)	E1229V	probably benign	Het
Itga8	A	G	2: 12,234,906 (GRCm39)	F451L	possibly damaging	Het
Jup	A	G	11: 100,272,560 (GRCm39)	F284S	probably damaging	Het
Kctd5	T	C	17: 24,292,209 (GRCm39)	D65G	probably benign	Het
Klrc1	A	T	6: 129,654,184 (GRCm39)	S148T	probably benign	Het
Kmt5b	A	G	19: 3,864,147 (GRCm39)	K404E	probably damaging	Het
Krt9	A	C	11: 100,081,617 (GRCm39)	M304R	probably damaging	Het
Krtap5-1	A	T	7: 141,850,299 (GRCm39)	S143T	unknown	Het
Kyat3	A	G	3: 142,426,162 (GRCm39)	N68D	probably damaging	Het
Kynu	A	G	2: 43,571,365 (GRCm39)	D427G	probably damaging	Het
Leo1	A	G	9: 75,353,278 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,501,892 (GRCm39)	D1737G	probably damaging	Het
Lpo	C	A	11: 87,700,077 (GRCm39)	L521F	possibly damaging	Het
Lrrk1	A	G	7: 65,920,573 (GRCm39)	S1477P	probably damaging	Het
Lrrtm1	C	A	6: 77,220,584 (GRCm39)	L14M	probably damaging	Het
Ly75	G	A	2: 60,154,196 (GRCm39)	R1084*	probably null	Het
Mcf2l	A	G	8: 13,060,456 (GRCm39)	D764G	probably benign	Het
Mmut	A	T	17: 41,249,564 (GRCm39)	M180L	probably benign	Het
Mrgprd	A	T	7: 144,876,086 (GRCm39)	D319V	probably benign	Het
Myom3	T	C	4: 135,522,490 (GRCm39)	L897P	possibly damaging	Het
Ncapd2	A	T	6: 125,161,291 (GRCm39)	M247K	possibly damaging	Het
Nlrp2	T	C	7: 5,320,533 (GRCm39)	D868G	probably damaging	Het
Npy6r	A	G	18: 44,408,999 (GRCm39)	N140S	probably damaging	Het
Nsmce4a	T	C	7: 130,141,602 (GRCm39)	K196E	probably benign	Het
Nup88	T	C	11: 70,836,080 (GRCm39)	K532R	probably benign	Het
Or6k4	T	A	1: 173,964,680 (GRCm39)	Y123*	probably null	Het
Or8d6	T	A	9: 39,853,805 (GRCm39)	V83E	probably benign	Het
Or8g29-ps1	A	T	9: 39,200,589 (GRCm39)	I199N	unknown	Het
Pbxip1	A	T	3: 89,354,735 (GRCm39)	D418V	possibly damaging	Het
Pde2a	C	A	7: 101,159,151 (GRCm39)	R761S	possibly damaging	Het
Phf10	A	T	17: 15,166,575 (GRCm39)	C432S	probably damaging	Het
Pitpnm2	T	C	5: 124,259,522 (GRCm39)	D1271G	probably damaging	Het
Plin1	A	T	7: 79,373,192 (GRCm39)	L259Q	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pou6f2	T	A	13: 18,414,379 (GRCm39)	Q132L	unknown	Het
Ppa2	A	T	3: 133,036,199 (GRCm39)	N118Y	possibly damaging	Het
Prickle2	T	C	6: 92,387,959 (GRCm39)	E537G	possibly damaging	Het
Prl3d1	A	G	13: 27,282,684 (GRCm39)	I141V	possibly damaging	Het
Prl8a1	A	T	13: 27,758,172 (GRCm39)	V179D	probably damaging	Het
Prr14l	A	G	5: 32,984,489 (GRCm39)	F1669L	probably benign	Het
Prrg4	T	A	2: 104,669,787 (GRCm39)	E110V	possibly damaging	Het
Rfx5	C	A	3: 94,866,187 (GRCm39)	H495Q	unknown	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rpe65	A	G	3: 159,328,491 (GRCm39)	Y433C	probably damaging	Het
Rpl35rt	A	T	1: 156,193,657 (GRCm39)	I4F	probably damaging	Het
Rtn4rl1	C	T	11: 75,156,576 (GRCm39)	S336F	possibly damaging	Het
Scn2a	A	G	2: 65,578,663 (GRCm39)	D1446G	probably benign	Het
Sdk1	C	A	5: 142,031,931 (GRCm39)	T1002K	probably benign	Het
Slc9b2	T	C	3: 135,036,422 (GRCm39)	S409P	probably benign	Het
Sowahc	A	G	10: 59,058,100 (GRCm39)	T79A	probably benign	Het
Spata31h1	G	A	10: 82,129,248 (GRCm39)	T1254I	probably benign	Het
Stk35	T	A	2: 129,643,513 (GRCm39)	C166S	probably benign	Het
Tarbp2	A	G	15: 102,430,922 (GRCm39)	H225R	probably benign	Het
Tdrd12	T	A	7: 35,188,648 (GRCm39)	K530*	probably null	Het
Terf2ip	A	G	8: 112,744,618 (GRCm39)	I312V	probably benign	Het
Tgfb1	T	C	7: 25,391,964 (GRCm39)		probably null	Het
Thbs2	T	C	17: 14,891,720 (GRCm39)	D939G	probably damaging	Het
Ube4b	A	T	4: 149,483,067 (GRCm39)	I67K	probably benign	Het
Ubn1	G	T	16: 4,895,080 (GRCm39)	V709F	possibly damaging	Het
Ugt2b5	T	C	5: 87,276,258 (GRCm39)	K339E	possibly damaging	Het
Vax2	T	C	6: 83,714,882 (GRCm39)	S266P	probably damaging	Het
Vmn2r108	A	G	17: 20,683,038 (GRCm39)	I722T	probably benign	Het
Vmn2r95	A	G	17: 18,661,577 (GRCm39)	K441R	probably benign	Het
Wapl	C	A	14: 34,458,648 (GRCm39)	D903E	probably benign	Het
Wee1	T	A	7: 109,734,001 (GRCm39)	V442D	probably benign	Het
Zan	T	C	5: 137,432,358 (GRCm39)	N2313S	unknown	Het

Other mutations in Aldh1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Aldh1l1	APN	6	90,575,362 (GRCm39)	missense	probably damaging	1.00
IGL01350:Aldh1l1	APN	6	90,536,338 (GRCm39)	missense	probably damaging	1.00
IGL01601:Aldh1l1	APN	6	90,568,823 (GRCm39)	missense	probably damaging	1.00
IGL01686:Aldh1l1	APN	6	90,536,215 (GRCm39)	splice site	probably benign
IGL01868:Aldh1l1	APN	6	90,560,212 (GRCm39)	nonsense	probably null
IGL01941:Aldh1l1	APN	6	90,539,677 (GRCm39)	missense	probably damaging	0.98
IGL01982:Aldh1l1	APN	6	90,536,845 (GRCm39)	missense	probably benign	0.00
IGL02088:Aldh1l1	APN	6	90,557,572 (GRCm39)	splice site	probably benign
IGL02159:Aldh1l1	APN	6	90,571,638 (GRCm39)	splice site	probably benign
IGL02450:Aldh1l1	APN	6	90,546,855 (GRCm39)	missense	probably benign	0.00
IGL02657:Aldh1l1	APN	6	90,567,776 (GRCm39)	missense	probably damaging	1.00
IGL02839:Aldh1l1	APN	6	90,546,857 (GRCm39)	missense	possibly damaging	0.95
R0149:Aldh1l1	UTSW	6	90,566,396 (GRCm39)	missense	possibly damaging	0.85
R0206:Aldh1l1	UTSW	6	90,546,848 (GRCm39)	missense	possibly damaging	0.88
R0206:Aldh1l1	UTSW	6	90,546,848 (GRCm39)	missense	possibly damaging	0.88
R0418:Aldh1l1	UTSW	6	90,546,875 (GRCm39)	missense	possibly damaging	0.49
R1121:Aldh1l1	UTSW	6	90,566,366 (GRCm39)	missense	probably benign
R1467:Aldh1l1	UTSW	6	90,548,910 (GRCm39)	missense	possibly damaging	0.90
R1467:Aldh1l1	UTSW	6	90,548,910 (GRCm39)	missense	possibly damaging	0.90
R1649:Aldh1l1	UTSW	6	90,541,371 (GRCm39)	missense	probably benign
R1793:Aldh1l1	UTSW	6	90,554,813 (GRCm39)	missense	possibly damaging	0.92
R2043:Aldh1l1	UTSW	6	90,534,314 (GRCm39)	missense	probably benign	0.05
R2044:Aldh1l1	UTSW	6	90,539,647 (GRCm39)	missense	probably benign	0.00
R2229:Aldh1l1	UTSW	6	90,560,168 (GRCm39)	missense	probably damaging	1.00
R2426:Aldh1l1	UTSW	6	90,575,266 (GRCm39)	missense	probably damaging	0.99
R4109:Aldh1l1	UTSW	6	90,539,626 (GRCm39)	missense	probably benign	0.04
R4818:Aldh1l1	UTSW	6	90,573,897 (GRCm39)	missense	probably benign
R5214:Aldh1l1	UTSW	6	90,540,399 (GRCm39)	missense	probably damaging	1.00
R5285:Aldh1l1	UTSW	6	90,553,752 (GRCm39)	nonsense	probably null
R5426:Aldh1l1	UTSW	6	90,536,281 (GRCm39)	missense	probably benign
R5516:Aldh1l1	UTSW	6	90,573,927 (GRCm39)	missense	possibly damaging	0.95
R5970:Aldh1l1	UTSW	6	90,574,028 (GRCm39)	intron	probably benign
R6235:Aldh1l1	UTSW	6	90,541,439 (GRCm39)	missense	probably benign	0.44
R6322:Aldh1l1	UTSW	6	90,539,680 (GRCm39)	missense	probably benign	0.03
R7053:Aldh1l1	UTSW	6	90,540,420 (GRCm39)	missense	possibly damaging	0.50
R7125:Aldh1l1	UTSW	6	90,553,761 (GRCm39)	critical splice donor site	probably null
R7128:Aldh1l1	UTSW	6	90,540,361 (GRCm39)	missense	probably benign	0.23
R7142:Aldh1l1	UTSW	6	90,540,398 (GRCm39)	missense	probably damaging	1.00
R7205:Aldh1l1	UTSW	6	90,575,257 (GRCm39)	missense	probably damaging	0.97
R7477:Aldh1l1	UTSW	6	90,575,369 (GRCm39)	critical splice donor site	probably null
R7669:Aldh1l1	UTSW	6	90,547,844 (GRCm39)	missense	probably benign
R7718:Aldh1l1	UTSW	6	90,575,305 (GRCm39)	missense	probably damaging	1.00
R7788:Aldh1l1	UTSW	6	90,546,894 (GRCm39)	missense	probably benign	0.20
R8438:Aldh1l1	UTSW	6	90,536,428 (GRCm39)	missense	probably damaging	1.00
R8922:Aldh1l1	UTSW	6	90,536,256 (GRCm39)	missense	probably damaging	1.00
R8969:Aldh1l1	UTSW	6	90,547,790 (GRCm39)	missense	probably benign
R9292:Aldh1l1	UTSW	6	90,568,867 (GRCm39)	missense	probably damaging	0.98
R9427:Aldh1l1	UTSW	6	90,536,903 (GRCm39)	missense	probably benign	0.06
R9560:Aldh1l1	UTSW	6	90,536,825 (GRCm39)	missense	probably damaging	1.00
R9771:Aldh1l1	UTSW	6	90,575,310 (GRCm39)	missense	probably benign	0.25
R9784:Aldh1l1	UTSW	6	90,541,424 (GRCm39)	missense	probably benign	0.07
RF007:Aldh1l1	UTSW	6	90,575,241 (GRCm39)	missense	probably damaging	0.99
Z1176:Aldh1l1	UTSW	6	90,560,155 (GRCm39)	missense	probably benign	0.11
Z1176:Aldh1l1	UTSW	6	90,534,266 (GRCm39)	frame shift	probably null
Z1177:Aldh1l1	UTSW	6	90,541,431 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGGTCAGTTCCTGGAACCC -3'
(R):5'- GGATGGAACCCTTGCATGTCTG -3'

Sequencing Primer
(F):5'- AACCCCGGCCTTTGTGTG -3'
(R):5'- TGTCTGCAATGAAGACACACATC -3'

Posted On

2019-06-26