Incidental Mutation 'R7481:Aldh3b3'
ID579840
Institutional Source Beutler Lab
Gene Symbol Aldh3b3
Ensembl Gene ENSMUSG00000037263
Gene Namealdehyde dehydrogenase 3 family, member B3
Synonyms1700055N04Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #R7481 (G1)
Quality Score225.009
Status Not validated
Chromosome19
Chromosomal Location3958645-3972103 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3964549 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 95 (M95V)
Ref Sequence ENSEMBL: ENSMUSP00000136334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179433] [ENSMUST00000189124]
Predicted Effect probably benign
Transcript: ENSMUST00000025794
SMART Domains Protein: ENSMUSP00000025794
Gene: ENSMUSG00000037263

DomainStartEndE-ValueType
PDB:4L2O|G 1 87 5e-22 PDB
SCOP:d1ad3a_ 8 82 2e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179433
AA Change: M95V

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136334
Gene: ENSMUSG00000037263
AA Change: M95V

DomainStartEndE-ValueType
Pfam:Aldedh 6 441 5.4e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189124
SMART Domains Protein: ENSMUSP00000140893
Gene: ENSMUSG00000037263

DomainStartEndE-ValueType
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: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,664,231 F68S unknown Het
Abcb6 A G 1: 75,173,604 F637L probably damaging Het
Arhgap45 A T 10: 80,022,300 H387L possibly damaging Het
Arntl2 G A 6: 146,818,871 A178T not run Het
Avil C T 10: 127,007,591 T130I probably benign Het
C1ra G A 6: 124,517,725 E316K probably benign Het
C3 C A 17: 57,220,136 W771L probably damaging Het
C6 A G 15: 4,814,875 I926M Het
Cacna1b G A 2: 24,616,862 L1903F probably damaging Het
Car3 A T 3: 14,863,572 M1L probably benign Het
Ccdc175 A G 12: 72,155,624 I299T probably benign Het
Chd9 C T 8: 90,956,438 T502I unknown Het
Clec4a1 G A 6: 122,928,039 C99Y probably damaging Het
Col19a1 C T 1: 24,317,707 G632R probably damaging Het
Dmbt1 A T 7: 131,079,511 probably null Het
Dopey1 A T 9: 86,535,932 K1951N probably damaging Het
Dpf3 A C 12: 83,331,927 L122R probably damaging Het
E430018J23Rik C T 7: 127,393,324 C38Y probably null Het
Edem3 A T 1: 151,808,222 S687C probably damaging Het
Edem3 G A 1: 151,808,223 S687N possibly damaging Het
Fig4 A G 10: 41,230,005 probably null Het
Fmnl2 A G 2: 53,108,431 T603A unknown Het
Frmd6 T A 12: 70,887,055 L249Q probably damaging Het
Glrx3 T C 7: 137,445,022 C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,817 probably benign Het
Gm6133 A T 18: 78,349,793 M1L probably benign Het
Gm9195 G A 14: 72,482,676 T105I probably benign Het
Hk2 G A 6: 82,760,169 T54I probably benign Het
Jade1 G A 3: 41,604,690 G402D probably benign Het
Kmt2a T C 9: 44,809,071 D3873G unknown Het
Map6 A T 7: 99,269,138 T373S possibly damaging Het
Megf9 T C 4: 70,433,442 T481A probably damaging Het
Mtus1 T A 8: 41,084,615 K21N probably damaging Het
Muc5b C T 7: 141,861,171 T2618I unknown Het
Nbas A G 12: 13,356,959 I852M probably damaging Het
Olfr1167 A G 2: 88,149,761 I86T probably benign Het
Olfr1242 C T 2: 89,494,292 V7I probably benign Het
Olfr125 T A 17: 37,835,398 M133K probably damaging Het
Olfr1480 A T 19: 13,530,453 Q304L probably damaging Het
Pank4 A G 4: 154,970,038 N156S probably damaging Het
Pcdhga8 A G 18: 37,727,937 E682G probably benign Het
Pde10a C A 17: 8,949,430 D312E possibly damaging Het
Pkhd1l1 A G 15: 44,512,911 T990A probably benign Het
Rab11fip1 T C 8: 27,156,581 T156A probably damaging Het
Rhbdd2 T A 5: 135,636,177 S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,917 probably benign Het
Ryr3 C A 2: 112,678,093 R3418S probably benign Het
Ryr3 C A 2: 112,678,094 R3418M possibly damaging Het
Sbno2 G A 10: 80,057,499 P1323S probably benign Het
Sec24d T C 3: 123,350,763 C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,819,695 probably benign Het
Skp2 A T 15: 9,113,817 V371E probably damaging Het
Soga3 G T 10: 29,196,523 V604L probably damaging Het
Strbp A T 2: 37,600,754 S496R probably benign Het
Stxbp4 G A 11: 90,594,813 T236I possibly damaging Het
Terf2 C T 8: 107,072,721 probably null Het
Thnsl1 A T 2: 21,211,788 T118S probably benign Het
Tlnrd1 A T 7: 83,882,338 V295E probably damaging Het
Ttll6 A G 11: 96,154,846 T630A probably benign Het
Usp9y G T Y: 1,432,180 A435E probably benign Het
Vil1 A C 1: 74,419,899 R187S probably damaging Het
Vmn2r31 A T 7: 7,384,580 V664E possibly damaging Het
Wdr17 T C 8: 54,661,336 I693M probably benign Het
Wdr82 C T 9: 106,176,666 T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 S160P probably benign Het
Zfat G A 15: 68,178,866 Q769* probably null Het
Zfp937 T A 2: 150,239,346 I432K probably benign Het
Zglp1 C T 9: 21,062,607 S261N probably benign Het
Other mutations in Aldh3b3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TTGAGAGCCAGCTTCATGG -3'
(R):5'- TGCCAGATGAGTAAGAGCCC -3'

Sequencing Primer
(F):5'- GTGACACTTGGGTTAAGTCACTTACC -3'
(R):5'- GATGAGTAAGAGCCCGCCTAAC -3'
Posted On2019-10-07