Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Aldh3b3'

705306

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: 0.292) question?

Stock #

R9307 (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 3963882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 28 (F28L)

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: F28L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136334
Gene: ENSMUSG00000037263
AA Change: F28L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189124
AA Change: F28L

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

SMART Domains

Protein: ENSMUSP00000140893
Gene: ENSMUSG00000037263
AA Change: F28L

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: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 138,065,422	D124A	probably benign	Het
2310035C23Rik	A	T	1: 105,687,352	Y272F	probably benign	Het
Acd	T	C	8: 105,698,882	D273G	probably damaging	Het
Adam15	T	C	3: 89,347,483	D90G	possibly damaging	Het
Adam2	A	T	14: 66,050,472	C392S	probably damaging	Het
Adam23	T	A	1: 63,536,972	N304K	probably damaging	Het
BC080695	C	A	4: 143,572,744	L326I	probably damaging	Het
Bsn	A	G	9: 108,115,794	S920P	probably benign	Het
Btc	A	G	5: 91,402,656		probably null	Het
Chchd2	A	T	5: 129,887,213	V12E	probably benign	Het
Chil4	A	T	3: 106,204,066		probably null	Het
Clock	A	G	5: 76,216,824	F815L	unknown	Het
Cmtr2	C	T	8: 110,223,080	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647	I289R	probably damaging	Het
Cog2	A	T	8: 124,527,098		probably null	Het
Col13a1	T	C	10: 61,867,469	I454V	unknown	Het
Cyct	T	A	2: 76,354,113	Y98F	probably benign	Het
Dcaf6	T	C	1: 165,399,667	E297G	possibly damaging	Het
Dgka	T	C	10: 128,731,177	H271R	probably damaging	Het
Dnah9	T	A	11: 66,085,474	I1250F	probably benign	Het
Dock4	T	C	12: 40,636,156	L130P	probably damaging	Het
Dpyd	G	A	3: 119,314,911	V868I	probably benign	Het
Dync1li1	T	A	9: 114,706,008	D113E	probably damaging	Het
Fat3	T	C	9: 16,021,423	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,209,784	C8R	probably benign	Het
Frmd4a	A	G	2: 4,604,233	M971V	probably benign	Het
Glyatl3	C	T	17: 40,912,662		probably null	Het
Gm498	G	T	7: 143,881,165		probably null	Het
Gm5346	A	C	8: 43,626,267	F307V	probably benign	Het
Grip1	A	T	10: 119,985,549	H373L	probably benign	Het
Ins1	T	C	19: 52,264,820	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,174,062	I1616L	probably benign	Het
Map7d1	A	G	4: 126,234,231	M637T	unknown	Het
Mc2r	A	T	18: 68,407,565	M219K	probably benign	Het
Mcpt1	A	G	14: 56,019,410	D135G	possibly damaging	Het
Mturn	T	C	6: 54,699,556		probably null	Het
Mutyh	T	A	4: 116,816,877		probably null	Het
Myh3	A	G	11: 67,093,571	D1078G	possibly damaging	Het
Olfr984	T	C	9: 40,101,155	I112V	probably benign	Het
Pcdha12	A	G	18: 37,020,821	K198E	probably damaging	Het
Pcf11	A	T	7: 92,657,326	N1211K	possibly damaging	Het
Piezo1	G	A	8: 122,487,093	P1711S		Het
Pkd1	T	A	17: 24,550,477	L72Q	possibly damaging	Het
Prss12	A	G	3: 123,505,400	D607G	probably benign	Het
R3hdml	T	C	2: 163,502,452	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,393,528		probably null	Het
Rev3l	C	T	10: 39,817,153	P410S	probably benign	Het
Rptn	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	3: 93,396,693		probably benign	Het
Sec14l2	A	G	11: 4,118,665	V5A	probably benign	Het
Slc12a3	A	C	8: 94,334,997	I291L	probably benign	Het
Slc4a10	T	C	2: 62,253,318	F372L	probably damaging	Het
Spta1	T	C	1: 174,208,412	W1095R	probably damaging	Het
Synj1	T	C	16: 90,988,207	T254A	probably damaging	Het
Taar2	T	C	10: 23,941,339	F259S	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,271	E108G	probably damaging	Het
Tns2	C	A	15: 102,110,561	L396I	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,649,822		probably benign	Het
Traf5	T	C	1: 192,062,733	D96G	probably damaging	Het
Trpv6	A	G	6: 41,625,444	V336A	probably benign	Het
Usp45	A	T	4: 21,824,998	L583F	probably damaging	Het
Utrn	T	C	10: 12,678,731	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,805,902	H206L	probably damaging	Het
Zfp51	T	A	17: 21,464,471	H449Q	probably benign	Het
Zfp653	G	A	9: 22,058,025	S315F	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
R7717:Aldh3b3	UTSW	19	3963970	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGTCCACCAGCGTTCAGAAG -3'
(R):5'- GGAGTGATAGAACAGCACCTCTG -3'

Sequencing Primer
(F):5'- GCGTTCAGAAGCACTCAGC -3'
(R):5'- CACCTCTGTGTGTCCAAGGATG -3'

Posted On

2022-03-25