Mutagenetix > Incidental Mutations

Incidental Mutation 'R7717:Aldh3b3'

595004

Institutional Source

Beutler Lab

Gene Symbol

Aldh3b3

Ensembl Gene

ENSMUSG00000037263

Gene Name

aldehyde dehydrogenase 3 family, member B3

Synonyms

1700055N04Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3958645-3972103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3963970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 57 (L57P)

Ref Sequence

ENSEMBL: ENSMUSP00000136334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179433] [ENSMUST00000189124]

AlphaFold

J3QMK6

Predicted Effect

probably benign
Transcript: ENSMUST00000025794

SMART Domains

Protein: ENSMUSP00000025794
Gene: ENSMUSG00000037263

Domain	Start	End	E-Value	Type
PDB:4L2O\|G	1	87	5e-22	PDB
SCOP:d1ad3a_	8	82	2e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000179433
AA Change: L57P

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

SMART Domains

Protein: ENSMUSP00000136334
Gene: ENSMUSG00000037263
AA Change: L57P

Domain	Start	End	E-Value	Type
Pfam:Aldedh	6	441	5.4e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189124
AA Change: L57P

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

SMART Domains

Protein: ENSMUSP00000140893
Gene: ENSMUSG00000037263
AA Change: L57P

Domain	Start	End	E-Value	Type
SCOP:d1ad3a_	18	72	2e-8	SMART
PDB:1AD3\|B	19	67	1e-8	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185	D766V	probably damaging	Het
Larp1b	C	T	3: 40,972,444	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Lss	T	C	10: 76,545,452	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	possibly damaging	Het

Other mutations in Aldh3b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Aldh3b3	APN	19	3965863	missense	probably benign	0.02
R0395:Aldh3b3	UTSW	19	3966472	missense	probably benign	0.00
R0762:Aldh3b3	UTSW	19	3965747	splice site	probably null
R1722:Aldh3b3	UTSW	19	3964871	missense	possibly damaging	0.76
R1754:Aldh3b3	UTSW	19	3968517	missense	probably benign
R1853:Aldh3b3	UTSW	19	3965822	missense	probably damaging	1.00
R1901:Aldh3b3	UTSW	19	3965130	missense	probably damaging	1.00
R3924:Aldh3b3	UTSW	19	3968491	missense	probably damaging	1.00
R4578:Aldh3b3	UTSW	19	3964832	missense	probably benign
R4689:Aldh3b3	UTSW	19	3964516	missense	probably damaging	0.97
R5632:Aldh3b3	UTSW	19	3968522	utr 3 prime	probably benign
R5635:Aldh3b3	UTSW	19	3968512	missense	probably benign	0.17
R7422:Aldh3b3	UTSW	19	3966476	missense	probably benign	0.01
R7478:Aldh3b3	UTSW	19	3964549	missense	probably benign	0.36
R7481:Aldh3b3	UTSW	19	3964549	missense	probably benign	0.36
R7863:Aldh3b3	UTSW	19	3965322	nonsense	probably null
R7868:Aldh3b3	UTSW	19	3968492	nonsense	probably null
R7895:Aldh3b3	UTSW	19	3964871	missense	possibly damaging	0.76
R8745:Aldh3b3	UTSW	19	3964890	missense	possibly damaging	0.95
R9093:Aldh3b3	UTSW	19	3963959	missense	possibly damaging	0.80
R9307:Aldh3b3	UTSW	19	3963882	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAGGCCACAAGCTTCTG -3'
(R):5'- TTTGGGCACATACCTTGCCG -3'

Sequencing Primer
(F):5'- GTCTTAATGACGGTGTCAGTCTCAAC -3'
(R):5'- GGCACATACCTTGCCGTGTATG -3'

Posted On

2019-11-12