Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Aldh1a7'

274087

Institutional Source

Beutler Lab

Gene Symbol

Aldh1a7

Ensembl Gene

ENSMUSG00000024747

Gene Name

aldehyde dehydrogenase family 1, subfamily A7

Synonyms

Aldh-pb, Ahd2-like

MMRRC Submission

040887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20670318-20704920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20685602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 316 (Y316C)

Ref Sequence

ENSEMBL: ENSMUSP00000025656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025656]

AlphaFold

O35945

Predicted Effect

probably damaging
Transcript: ENSMUST00000025656
AA Change: Y316C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025656
Gene: ENSMUSG00000024747
AA Change: Y316C

Domain	Start	End	E-Value	Type
Pfam:Aldedh	29	492	2.5e-185	PFAM

Meta Mutation Damage Score

0.9079

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Arhgef38	T	C	3: 132,912,686 (GRCm39)	R118G	possibly damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cblc	T	C	7: 19,526,097 (GRCm39)	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,233,953 (GRCm39)	N259S	probably benign	Het
Cep55	A	G	19: 38,041,560 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,546,951 (GRCm39)	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Erich3	G	A	3: 154,467,998 (GRCm39)	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568 (GRCm39)	S31P	probably benign	Het
Gtsf1	T	C	15: 103,333,902 (GRCm39)	I25V	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klhl28	C	A	12: 64,998,195 (GRCm39)	G433V	probably damaging	Het
Lipn	T	C	19: 34,046,933 (GRCm39)		probably null	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Or14c44	A	T	7: 86,062,401 (GRCm39)	Y277F	probably damaging	Het
Or14j5	T	C	17: 38,162,071 (GRCm39)	V196A	probably benign	Het
Otud1	G	C	2: 19,662,951 (GRCm39)	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,028,693 (GRCm39)	V150E	probably damaging	Het
Peak1	T	C	9: 56,165,667 (GRCm39)	S754G	probably benign	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Phlpp1	G	A	1: 106,320,327 (GRCm39)	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pikfyve	G	A	1: 65,283,579 (GRCm39)	V739I	probably damaging	Het
Plcg1	T	G	2: 160,596,357 (GRCm39)	M651R	possibly damaging	Het
Prex2	T	C	1: 11,226,588 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rab11fip1	G	A	8: 27,642,774 (GRCm39)	T675I	probably benign	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,554,894 (GRCm39)	C113S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,292 (GRCm39)	S182G	probably damaging	Het
Tecta	A	C	9: 42,250,329 (GRCm39)	F1816C	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Trim47	T	C	11: 115,998,783 (GRCm39)	T279A	probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Vcam1	T	C	3: 115,908,140 (GRCm39)	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,300,212 (GRCm39)	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,576,262 (GRCm39)	W378R	probably damaging	Het
Zfp777	T	C	6: 48,021,149 (GRCm39)	T158A	probably benign	Het
Zp1	T	C	19: 10,893,888 (GRCm39)	D439G	probably damaging	Het

Other mutations in Aldh1a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Aldh1a7	APN	19	20,677,410 (GRCm39)	missense	probably damaging	1.00
IGL01132:Aldh1a7	APN	19	20,704,404 (GRCm39)	missense	possibly damaging	0.76
IGL01630:Aldh1a7	APN	19	20,673,693 (GRCm39)	splice site	probably benign
IGL01901:Aldh1a7	APN	19	20,695,103 (GRCm39)	missense	probably damaging	0.99
IGL02324:Aldh1a7	APN	19	20,704,368 (GRCm39)	missense	probably damaging	1.00
IGL02822:Aldh1a7	APN	19	20,679,630 (GRCm39)	missense	possibly damaging	0.85
IGL03162:Aldh1a7	APN	19	20,685,645 (GRCm39)	missense	probably benign	0.21
PIT4514001:Aldh1a7	UTSW	19	20,679,604 (GRCm39)	missense	probably benign	0.07
R0125:Aldh1a7	UTSW	19	20,704,430 (GRCm39)	splice site	probably benign
R0268:Aldh1a7	UTSW	19	20,686,866 (GRCm39)	critical splice acceptor site	probably null
R0833:Aldh1a7	UTSW	19	20,679,607 (GRCm39)	missense	probably damaging	1.00
R1665:Aldh1a7	UTSW	19	20,704,825 (GRCm39)	missense	probably benign
R1709:Aldh1a7	UTSW	19	20,693,316 (GRCm39)	missense	probably damaging	1.00
R1772:Aldh1a7	UTSW	19	20,693,383 (GRCm39)	missense	probably damaging	1.00
R1917:Aldh1a7	UTSW	19	20,704,819 (GRCm39)	missense	probably benign
R2570:Aldh1a7	UTSW	19	20,677,320 (GRCm39)	missense	probably benign	0.35
R3778:Aldh1a7	UTSW	19	20,696,675 (GRCm39)	missense	possibly damaging	0.70
R3894:Aldh1a7	UTSW	19	20,673,762 (GRCm39)	nonsense	probably null
R4601:Aldh1a7	UTSW	19	20,693,343 (GRCm39)	missense	probably damaging	0.98
R4948:Aldh1a7	UTSW	19	20,704,374 (GRCm39)	missense	possibly damaging	0.77
R5562:Aldh1a7	UTSW	19	20,679,628 (GRCm39)	nonsense	probably null
R5606:Aldh1a7	UTSW	19	20,699,731 (GRCm39)	missense	probably damaging	1.00
R5641:Aldh1a7	UTSW	19	20,693,293 (GRCm39)	missense	probably benign	0.00
R5808:Aldh1a7	UTSW	19	20,685,561 (GRCm39)	missense	possibly damaging	0.79
R6646:Aldh1a7	UTSW	19	20,677,275 (GRCm39)	missense	possibly damaging	0.94
R6759:Aldh1a7	UTSW	19	20,677,320 (GRCm39)	missense	possibly damaging	0.89
R7034:Aldh1a7	UTSW	19	20,685,542 (GRCm39)	missense	possibly damaging	0.95
R7036:Aldh1a7	UTSW	19	20,685,542 (GRCm39)	missense	possibly damaging	0.95
R7150:Aldh1a7	UTSW	19	20,693,382 (GRCm39)	missense	probably damaging	1.00
R7255:Aldh1a7	UTSW	19	20,692,092 (GRCm39)	missense	probably damaging	1.00
R7875:Aldh1a7	UTSW	19	20,693,343 (GRCm39)	missense	possibly damaging	0.90
R7964:Aldh1a7	UTSW	19	20,693,406 (GRCm39)	missense	probably benign	0.05
R7964:Aldh1a7	UTSW	19	20,677,371 (GRCm39)	missense	probably damaging	0.99
R7984:Aldh1a7	UTSW	19	20,686,764 (GRCm39)	missense	probably damaging	0.98
R8547:Aldh1a7	UTSW	19	20,692,067 (GRCm39)	missense	possibly damaging	0.93
X0022:Aldh1a7	UTSW	19	20,696,679 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGAATCATGTCCTTGCTGTTG -3'
(R):5'- TCTGTATTACCATACTGCATCTGAG -3'

Sequencing Primer
(F):5'- ACCAGATGAAGATAATATCAGCTAGC -3'
(R):5'- GCATCTGAGAAATATAATTGCGTGTG -3'

Posted On

2015-04-02