Mutagenetix > Incidental Mutation

Incidental Mutation 'R1722:Aldh3b3'

191584

Institutional Source

Beutler Lab

Gene Symbol

Aldh3b3

Ensembl Gene

ENSMUSG00000037263

Gene Name

aldehyde dehydrogenase 3 family, member B3

Synonyms

1700055N04Rik

MMRRC Submission

039754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4008645-4022103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4014871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 123 (I123V)

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

possibly damaging
Transcript: ENSMUST00000179433
AA Change: I123V

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136334
Gene: ENSMUSG00000037263
AA Change: I123V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189124

SMART Domains

Protein: ENSMUSP00000140893
Gene: ENSMUSG00000037263

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	T	2: 103,824,273 (GRCm39)		probably null	Het
Adss1	A	T	12: 112,602,915 (GRCm39)	I346F	possibly damaging	Het
Ahnak	T	A	19: 8,988,019 (GRCm39)	L3101H	probably damaging	Het
Angptl1	C	T	1: 156,684,655 (GRCm39)	P275S	possibly damaging	Het
Apoa5	C	T	9: 46,181,847 (GRCm39)	Q308*	probably null	Het
Arhgef12	T	C	9: 42,932,013 (GRCm39)	*106W	probably null	Het
Atp2c1	A	G	9: 105,316,599 (GRCm39)	Y485H	probably benign	Het
Atp6v1b1	C	T	6: 83,720,074 (GRCm39)	T3I	possibly damaging	Het
Btbd7	A	T	12: 102,778,913 (GRCm39)	I451N	possibly damaging	Het
Clasp1	T	G	1: 118,518,194 (GRCm39)	L1080R	probably damaging	Het
Clec4f	A	G	6: 83,623,915 (GRCm39)	V408A	probably benign	Het
Clint1	T	A	11: 45,797,233 (GRCm39)	M438K	possibly damaging	Het
Cuzd1	A	T	7: 130,913,373 (GRCm39)	Y415N	probably damaging	Het
Ddias	A	G	7: 92,509,250 (GRCm39)	F222L	possibly damaging	Het
Efcab7	A	T	4: 99,757,815 (GRCm39)	T321S	probably benign	Het
Elp3	A	T	14: 65,788,846 (GRCm39)	D393E	probably benign	Het
Fbn2	T	C	18: 58,181,124 (GRCm39)		probably null	Het
Fcgr3	T	C	1: 170,881,688 (GRCm39)	R146G	possibly damaging	Het
Fkrp	G	A	7: 16,544,719 (GRCm39)	A381V	probably benign	Het
Gatad2b	T	G	3: 90,262,986 (GRCm39)	I476S	probably damaging	Het
Gm1527	C	T	3: 28,975,783 (GRCm39)	H557Y	probably benign	Het
Gm2431	A	T	7: 141,811,599 (GRCm39)	C102S	unknown	Het
Hoxd13	A	G	2: 74,500,389 (GRCm39)	N310S	probably benign	Het
Il9	T	A	13: 56,627,208 (GRCm39)	T135S	probably benign	Het
Ints4	A	C	7: 97,162,786 (GRCm39)	N476T	probably benign	Het
Kcnq4	A	C	4: 120,559,624 (GRCm39)	D525E	probably benign	Het
Kncn	A	T	4: 115,743,096 (GRCm39)	Y57F	probably damaging	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Lrrfip2	A	G	9: 111,028,829 (GRCm39)	T351A	probably damaging	Het
Madd	T	C	2: 90,997,982 (GRCm39)	E682G	probably benign	Het
Marchf7	A	C	2: 60,064,526 (GRCm39)	R267S	probably damaging	Het
Mmp16	T	A	4: 18,051,767 (GRCm39)	L252Q	probably damaging	Het
Mri1	A	T	8: 84,980,554 (GRCm39)	V296D	possibly damaging	Het
Myo3a	A	G	2: 22,404,638 (GRCm39)	T665A	probably benign	Het
N4bp2	T	C	5: 65,964,225 (GRCm39)	V758A	probably benign	Het
Nbea	T	C	3: 55,573,116 (GRCm39)	D2489G	probably damaging	Het
Neb	T	C	2: 52,146,757 (GRCm39)	T2836A	probably damaging	Het
Nedd4l	T	A	18: 65,291,010 (GRCm39)	V203E	probably damaging	Het
Nkpd1	C	A	7: 19,257,846 (GRCm39)	Q392K	possibly damaging	Het
Nploc4	G	T	11: 120,273,395 (GRCm39)	A576E	probably benign	Het
Nxph1	T	A	6: 9,247,516 (GRCm39)	N162K	probably damaging	Het
Or3a1	T	C	11: 74,225,271 (GRCm39)	Y262C	probably damaging	Het
Or7c70	T	A	10: 78,682,805 (GRCm39)	T315S	probably benign	Het
Pabpc2	T	G	18: 39,908,169 (GRCm39)	I478S	probably benign	Het
Pde7b	G	T	10: 20,311,990 (GRCm39)	H190Q	probably damaging	Het
Plekha2	A	T	8: 25,532,976 (GRCm39)	S332T	probably benign	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rasl11a	A	T	5: 146,782,052 (GRCm39)	H9L	probably benign	Het
Rer1	A	T	4: 155,159,458 (GRCm39)	F177I	probably damaging	Het
Rinl	T	C	7: 28,491,669 (GRCm39)	L74P	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rttn	T	C	18: 88,991,655 (GRCm39)	V78A	probably benign	Het
Skint5	A	T	4: 113,703,508 (GRCm39)		probably null	Het
Tenm2	A	C	11: 35,898,930 (GRCm39)	Y2743D	probably damaging	Het
Tmem101	T	C	11: 102,045,519 (GRCm39)	Y110C	probably damaging	Het
Trim9	T	C	12: 70,295,148 (GRCm39)	N658S	probably benign	Het
Ucp1	A	T	8: 84,017,317 (GRCm39)	T36S	probably benign	Het
Vmn2r43	A	G	7: 8,258,067 (GRCm39)	I382T	probably damaging	Het
Zfp142	C	T	1: 74,608,935 (GRCm39)	R1620Q	probably damaging	Het
Zfp386	T	C	12: 116,023,526 (GRCm39)	S380P	probably damaging	Het

Other mutations in Aldh3b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Aldh3b3	APN	19	4,015,863 (GRCm39)	missense	probably benign	0.02
R0395:Aldh3b3	UTSW	19	4,016,472 (GRCm39)	missense	probably benign	0.00
R0762:Aldh3b3	UTSW	19	4,015,747 (GRCm39)	splice site	probably null
R1754:Aldh3b3	UTSW	19	4,018,517 (GRCm39)	missense	probably benign
R1853:Aldh3b3	UTSW	19	4,015,822 (GRCm39)	missense	probably damaging	1.00
R1901:Aldh3b3	UTSW	19	4,015,130 (GRCm39)	missense	probably damaging	1.00
R3924:Aldh3b3	UTSW	19	4,018,491 (GRCm39)	missense	probably damaging	1.00
R4578:Aldh3b3	UTSW	19	4,014,832 (GRCm39)	missense	probably benign
R4689:Aldh3b3	UTSW	19	4,014,516 (GRCm39)	missense	probably damaging	0.97
R5632:Aldh3b3	UTSW	19	4,018,522 (GRCm39)	utr 3 prime	probably benign
R5635:Aldh3b3	UTSW	19	4,018,512 (GRCm39)	missense	probably benign	0.17
R7422:Aldh3b3	UTSW	19	4,016,476 (GRCm39)	missense	probably benign	0.01
R7478:Aldh3b3	UTSW	19	4,014,549 (GRCm39)	missense	probably benign	0.36
R7481:Aldh3b3	UTSW	19	4,014,549 (GRCm39)	missense	probably benign	0.36
R7717:Aldh3b3	UTSW	19	4,013,970 (GRCm39)	missense	probably damaging	1.00
R7863:Aldh3b3	UTSW	19	4,015,322 (GRCm39)	nonsense	probably null
R7868:Aldh3b3	UTSW	19	4,018,492 (GRCm39)	nonsense	probably null
R7895:Aldh3b3	UTSW	19	4,014,871 (GRCm39)	missense	possibly damaging	0.76
R8745:Aldh3b3	UTSW	19	4,014,890 (GRCm39)	missense	possibly damaging	0.95
R9093:Aldh3b3	UTSW	19	4,013,959 (GRCm39)	missense	possibly damaging	0.80
R9307:Aldh3b3	UTSW	19	4,013,882 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCCCTTGAGTCCAAAGTAAGCC -3'
(R):5'- TCAGCACCACACAGTTTCCTGC -3'

Sequencing Primer
(F):5'- TGAGTCCAAAGTAAGCCAGTCTTC -3'
(R):5'- AGTTTCCTGCCAGGAGCC -3'

Posted On

2014-05-14