Mutagenetix > Incidental Mutation

Incidental Mutation 'R0149:Aldh1l1'

22715

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l1

Ensembl Gene

ENSMUSG00000030088

Gene Name

aldehyde dehydrogenase 1 family, member L1

Synonyms

Fthfd, 1810048F20Rik

MMRRC Submission

038433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

90527751-90576153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90566396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 656 (K656E)

Ref Sequence

ENSEMBL: ENSMUSP00000114304 (fasta)

Gene Model

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

AlphaFold

Q8R0Y6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032175
AA Change: K656E

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: K656E

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

possibly damaging
Transcript: ENSMUST00000130418
AA Change: K656E

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: K656E

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

Meta Mutation Damage Score

0.3722

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	C	8: 12,330,000 (GRCm39)	S152R	unknown	Het
Acsbg2	A	G	17: 57,160,924 (GRCm39)		probably benign	Het
Adam6a	G	T	12: 113,509,369 (GRCm39)	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Ascc3	A	T	10: 50,484,089 (GRCm39)	N55I	probably benign	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Clk1	T	A	1: 58,453,760 (GRCm39)	N305Y	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,676,968 (GRCm39)	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,182,571 (GRCm39)	S188P	probably damaging	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,653,978 (GRCm39)	Y1418*	probably null	Het
Efemp2	A	T	19: 5,527,988 (GRCm39)	H107L	probably damaging	Het
Eng	T	C	2: 32,562,397 (GRCm39)		probably null	Het
Erc1	A	T	6: 119,801,791 (GRCm39)	S75R	probably damaging	Het
Fgl2	A	T	5: 21,580,783 (GRCm39)	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,402,475 (GRCm39)	I295M	probably benign	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
Gmcl1	A	T	6: 86,709,891 (GRCm39)		probably null	Het
Has1	T	C	17: 18,070,433 (GRCm39)	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,553,075 (GRCm39)	N2538K	probably benign	Het
Itga2	A	G	13: 114,973,115 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kcnk4	T	C	19: 6,903,562 (GRCm39)	E329G	probably benign	Het
Kcnt1	T	C	2: 25,788,276 (GRCm39)		probably benign	Het
Klkb1	A	G	8: 45,729,100 (GRCm39)	C375R	probably damaging	Het
Loxl2	C	A	14: 69,930,527 (GRCm39)	H764N	probably benign	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Magi1	A	T	6: 93,724,226 (GRCm39)	I263N	probably damaging	Het
Map4	C	T	9: 109,896,692 (GRCm39)	P641L	probably damaging	Het
Mars1	A	T	10: 127,135,903 (GRCm39)	N558K	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,875,965 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,300,153 (GRCm39)	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,522,352 (GRCm39)	I36F	probably benign	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Ngf	T	A	3: 102,427,762 (GRCm39)	H174Q	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Or8g21	T	A	9: 38,905,880 (GRCm39)	M284L	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
P4ha1	A	G	10: 59,184,221 (GRCm39)	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,468,966 (GRCm39)	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plxna1	T	C	6: 89,297,595 (GRCm39)	E1863G	probably null	Het
Prdm10	T	G	9: 31,227,455 (GRCm39)		probably benign	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Rgs1	T	C	1: 144,124,825 (GRCm39)		probably benign	Het
Rgsl1	A	G	1: 153,669,510 (GRCm39)	F292S	probably damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Rsph10b	T	A	5: 143,875,727 (GRCm39)		probably benign	Het
Rwdd4a	A	G	8: 47,997,255 (GRCm39)	D158G	probably null	Het
Sdk1	T	C	5: 141,842,809 (GRCm39)		probably benign	Het
Serpina3n	A	C	12: 104,377,635 (GRCm39)	K296T	probably benign	Het
Slco1a8	T	C	6: 141,938,203 (GRCm39)	T239A	probably benign	Het
Snw1	A	G	12: 87,508,687 (GRCm39)	V124A	possibly damaging	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmc6	G	A	11: 117,660,274 (GRCm39)	L655F	probably damaging	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,560,913 (GRCm39)	I257T	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Unc80	T	A	1: 66,560,760 (GRCm39)	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,482,257 (GRCm39)	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,741,509 (GRCm39)		probably null	Het
Ylpm1	G	T	12: 85,075,612 (GRCm39)	R321L	probably damaging	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	probably benign	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
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
R7203:Aldh1l1	UTSW	6	90,547,782 (GRCm39)	missense	probably benign	0.01
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'- TCCCATGAGTCCTAACATGGCATACC -3'
(R):5'- AGCTCTCTGTTCATGATGCCTAACAC -3'

Sequencing Primer
(F):5'- GTAAAAAGCATGGTGTAGCATCCTC -3'
(R):5'- cagcccaggcaaaattgac -3'

Posted On

2013-04-16