Incidental Mutation 'IGL03377:Fam107b'
ID 420522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam107b
Ensembl Gene ENSMUSG00000026655
Gene Name family with sequence similarity 107, member B
Synonyms 3110001A13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03377
Quality Score
Status
Chromosome 2
Chromosomal Location 3705049-3783179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3779481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 52 (E52V)
Ref Sequence ENSEMBL: ENSMUSP00000110707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027965] [ENSMUST00000115052] [ENSMUST00000115053] [ENSMUST00000115054] [ENSMUST00000115055] [ENSMUST00000176254] [ENSMUST00000177125] [ENSMUST00000226435]
AlphaFold Q3TGF2
Predicted Effect probably damaging
Transcript: ENSMUST00000027965
AA Change: E52V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027965
Gene: ENSMUSG00000026655
AA Change: E52V

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115052
AA Change: E74V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110704
Gene: ENSMUSG00000026655
AA Change: E74V

DomainStartEndE-ValueType
Pfam:DUF1151 29 142 3.4e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115053
AA Change: E52V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110705
Gene: ENSMUSG00000026655
AA Change: E52V

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115054
AA Change: E52V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110706
Gene: ENSMUSG00000026655
AA Change: E52V

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115055
AA Change: E52V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110707
Gene: ENSMUSG00000026655
AA Change: E52V

DomainStartEndE-ValueType
Pfam:DUF1151 1 120 3.9e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176254
SMART Domains Protein: ENSMUSP00000135846
Gene: ENSMUSG00000026655

DomainStartEndE-ValueType
Pfam:DUF1151 1 64 2.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177125
Predicted Effect probably damaging
Transcript: ENSMUST00000226435
AA Change: E228V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,096,256 (GRCm39) I489L probably benign Het
Acox3 T C 5: 35,751,676 (GRCm39) L237P probably damaging Het
Ahi1 T G 10: 20,893,903 (GRCm39) I878S possibly damaging Het
Alox15 T A 11: 70,240,488 (GRCm39) Y231F probably damaging Het
Asxl1 A T 2: 153,238,700 (GRCm39) K342M probably damaging Het
Atl2 T C 17: 80,172,519 (GRCm39) I150M probably damaging Het
Bag6 T C 17: 35,363,958 (GRCm39) Y822H probably damaging Het
Ccdc171 T C 4: 83,581,754 (GRCm39) Y628H probably damaging Het
Ceacam5 T A 7: 17,449,056 (GRCm39) Y141N probably benign Het
Ces1a A G 8: 93,766,116 (GRCm39) V166A probably damaging Het
Chrdl2 G A 7: 99,671,259 (GRCm39) A126T probably benign Het
Cyp2d26 T C 15: 82,674,755 (GRCm39) E409G possibly damaging Het
Dicer1 T C 12: 104,678,456 (GRCm39) I621V probably damaging Het
Enpp1 T A 10: 24,536,181 (GRCm39) probably null Het
Epha2 T A 4: 141,049,723 (GRCm39) S776R probably benign Het
Fam169a A G 13: 97,228,381 (GRCm39) N18S probably benign Het
Fbxw21 A T 9: 108,968,597 (GRCm39) F460I probably benign Het
Fgfr2 A T 7: 129,800,247 (GRCm39) I329N probably damaging Het
Fndc7 T C 3: 108,783,848 (GRCm39) S254G probably benign Het
Glis1 T G 4: 107,489,478 (GRCm39) H688Q probably damaging Het
Grip1 A G 10: 119,890,937 (GRCm39) E898G probably damaging Het
Gtf2a1l T A 17: 89,019,021 (GRCm39) D368E probably benign Het
Gucy1a1 T A 3: 82,013,322 (GRCm39) H440L probably damaging Het
H2-M10.5 A T 17: 37,084,377 (GRCm39) D113V probably benign Het
Hook2 G T 8: 85,727,964 (GRCm39) E554* probably null Het
Itpr2 A C 6: 146,231,213 (GRCm39) V1182G probably damaging Het
Itpr2 T A 6: 146,231,256 (GRCm39) T1135S probably benign Het
Kdm4c T C 4: 74,189,492 (GRCm39) I69T possibly damaging Het
Klhl31 A T 9: 77,558,345 (GRCm39) K354* probably null Het
Krt222 T A 11: 99,127,339 (GRCm39) K159* probably null Het
Loxhd1 A G 18: 77,529,369 (GRCm39) E2004G possibly damaging Het
Man2a2 A T 7: 80,008,800 (GRCm39) probably null Het
Med24 A G 11: 98,595,962 (GRCm39) F963L possibly damaging Het
Mphosph8 A G 14: 56,930,943 (GRCm39) E744G probably damaging Het
Mypn A G 10: 63,028,644 (GRCm39) S140P probably benign Het
Npc1 A G 18: 12,344,878 (GRCm39) F331L probably benign Het
Obscn C A 11: 58,890,699 (GRCm39) G1798W probably damaging Het
Or5d18 A T 2: 87,864,589 (GRCm39) V298D probably damaging Het
Patj C T 4: 98,353,341 (GRCm39) P110L probably damaging Het
Pkhd1l1 T G 15: 44,347,747 (GRCm39) probably null Het
Prdm5 A G 6: 65,836,457 (GRCm39) H256R possibly damaging Het
Ralgps1 A G 2: 33,062,473 (GRCm39) Y267H probably damaging Het
Rfpl4 T G 7: 5,113,464 (GRCm39) Y239S probably damaging Het
Rnpepl1 A T 1: 92,846,953 (GRCm39) M592L probably benign Het
Serpinc1 A T 1: 160,821,012 (GRCm39) H32L probably damaging Het
Skint5 T A 4: 113,620,735 (GRCm39) T660S unknown Het
Slc26a2 T C 18: 61,331,658 (GRCm39) N591S probably damaging Het
Slc9b2 C T 3: 135,042,119 (GRCm39) A466V probably damaging Het
Slco1a5 T A 6: 142,180,492 (GRCm39) T637S probably benign Het
Snx25 A G 8: 46,533,338 (GRCm39) probably benign Het
Szt2 T C 4: 118,259,594 (GRCm39) probably benign Het
Vmn1r183 A G 7: 23,754,817 (GRCm39) M207V possibly damaging Het
Wdcp T G 12: 4,900,691 (GRCm39) Y182* probably null Het
Zc3h13 A G 14: 75,531,416 (GRCm39) T105A possibly damaging Het
Zfp933 T C 4: 147,913,168 (GRCm39) K30R possibly damaging Het
Other mutations in Fam107b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Fam107b APN 2 3,779,565 (GRCm39) missense probably damaging 1.00
R4021:Fam107b UTSW 2 3,779,511 (GRCm39) missense probably damaging 1.00
R4234:Fam107b UTSW 2 3,771,777 (GRCm39) missense possibly damaging 0.67
R4841:Fam107b UTSW 2 3,779,580 (GRCm39) missense probably damaging 1.00
R4842:Fam107b UTSW 2 3,779,580 (GRCm39) missense probably damaging 1.00
R4938:Fam107b UTSW 2 3,773,907 (GRCm39) missense probably benign 0.00
R5557:Fam107b UTSW 2 3,771,791 (GRCm39) nonsense probably null
R5754:Fam107b UTSW 2 3,779,457 (GRCm39) missense probably damaging 1.00
R5892:Fam107b UTSW 2 3,779,601 (GRCm39) missense probably damaging 1.00
R5996:Fam107b UTSW 2 3,780,667 (GRCm39) splice site probably null
R7634:Fam107b UTSW 2 3,771,777 (GRCm39) missense possibly damaging 0.67
R7652:Fam107b UTSW 2 3,773,884 (GRCm39) missense probably benign 0.00
R7664:Fam107b UTSW 2 3,571,747 (GRCm39) missense probably damaging 0.98
R7672:Fam107b UTSW 2 3,773,959 (GRCm39) missense probably damaging 1.00
X0027:Fam107b UTSW 2 3,779,504 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02