Incidental Mutation 'IGL02623:Gm4787'
ID 300937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4787
Ensembl Gene ENSMUSG00000072974
Gene Name predicted gene 4787
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02623
Quality Score
Status
Chromosome 12
Chromosomal Location 81376991-81379464 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81378728 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 219 (Y219H)
Ref Sequence ENSEMBL: ENSMUSP00000077390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]
AlphaFold B2RUD9
Predicted Effect probably damaging
Transcript: ENSMUST00000062182
AA Change: Y219H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: Y219H

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Pep_M12B_propep 46 163 1.5e-19 PFAM
Pfam:Reprolysin 213 406 4.6e-18 PFAM
DISIN 425 500 2e-33 SMART
ACR 501 644 2.83e-53 SMART
transmembrane domain 714 736 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110340
SMART Domains Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

DomainStartEndE-ValueType
Pfam:COX16 16 74 6.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164386
SMART Domains Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

DomainStartEndE-ValueType
PDZ 21 100 6.16e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166723
SMART Domains Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

DomainStartEndE-ValueType
Pfam:COX16 16 73 6.9e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,056,144 (GRCm38) I35F probably benign Het
Acad10 A G 5: 121,629,930 (GRCm38) V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 (GRCm38) N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 (GRCm38) probably benign Het
Armc8 T C 9: 99,527,069 (GRCm38) probably benign Het
B3gnt5 A G 16: 19,769,610 (GRCm38) D193G probably damaging Het
Cacng1 A G 11: 107,704,319 (GRCm38) F144S probably damaging Het
Dnm3 T A 1: 162,355,432 (GRCm38) T105S probably damaging Het
Efcab6 T A 15: 83,879,448 (GRCm38) I1228F probably damaging Het
Erc2 A G 14: 27,776,980 (GRCm38) D271G probably damaging Het
Fat3 T C 9: 15,997,137 (GRCm38) Y2523C probably damaging Het
Fhl4 A G 10: 85,098,171 (GRCm38) F249L probably damaging Het
Gm17782 T C 17: 36,162,066 (GRCm38) probably benign Het
Hk1 A G 10: 62,292,359 (GRCm38) L328P probably benign Het
Hspa12a T A 19: 58,809,551 (GRCm38) Y245F probably benign Het
Kbtbd12 T C 6: 88,618,389 (GRCm38) Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 (GRCm38) R562S probably benign Het
Lct T C 1: 128,308,251 (GRCm38) S340G probably benign Het
Maats1 T A 16: 38,333,778 (GRCm38) D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 (GRCm38) G262W probably damaging Het
Mindy3 G A 2: 12,364,483 (GRCm38) Q142* probably null Het
Olfr1045 A T 2: 86,198,019 (GRCm38) H244Q probably damaging Het
Optn T C 2: 5,035,022 (GRCm38) E318G probably damaging Het
Pan2 T C 10: 128,312,899 (GRCm38) S443P probably benign Het
Parva A G 7: 112,576,439 (GRCm38) D259G probably damaging Het
Pkhd1l1 T A 15: 44,584,873 (GRCm38) L3816Q probably damaging Het
Polq T C 16: 37,060,375 (GRCm38) F967S probably benign Het
Prdm16 T C 4: 154,340,877 (GRCm38) N817S probably damaging Het
Ptprt C A 2: 161,607,452 (GRCm38) probably benign Het
Rbbp8nl T A 2: 180,281,443 (GRCm38) S154C probably damaging Het
Ror2 C T 13: 53,110,728 (GRCm38) S764N probably damaging Het
Slit1 T C 19: 41,651,683 (GRCm38) I169V probably damaging Het
Smyd4 G T 11: 75,390,064 (GRCm38) probably benign Het
Tial1 A G 7: 128,443,883 (GRCm38) Y326H probably benign Het
Tmem198b A G 10: 128,802,451 (GRCm38) L81P probably damaging Het
Tmem94 T A 11: 115,796,401 (GRCm38) C1115* probably null Het
Tns3 A G 11: 8,437,141 (GRCm38) S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 (GRCm38) N7I probably damaging Het
Zfp106 A T 2: 120,545,914 (GRCm38) probably null Het
Zfp119b T C 17: 55,939,793 (GRCm38) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm38) C503S probably damaging Het
Zfyve19 G A 2: 119,212,015 (GRCm38) probably null Het
Zxdc G T 6: 90,382,370 (GRCm38) K661N probably damaging Het
Other mutations in Gm4787
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01719:Gm4787 APN 12 81,377,174 (GRCm38) missense possibly damaging 0.50
IGL01916:Gm4787 APN 12 81,377,444 (GRCm38) missense probably benign 0.36
IGL02193:Gm4787 APN 12 81,378,528 (GRCm38) missense probably benign 0.02
IGL02681:Gm4787 APN 12 81,378,769 (GRCm38) missense possibly damaging 0.88
IGL03257:Gm4787 APN 12 81,378,052 (GRCm38) missense probably damaging 1.00
IGL03410:Gm4787 APN 12 81,379,174 (GRCm38) missense probably damaging 1.00
F5770:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
PIT4362001:Gm4787 UTSW 12 81,377,175 (GRCm38) missense probably benign
R0070:Gm4787 UTSW 12 81,379,066 (GRCm38) missense probably damaging 1.00
R0128:Gm4787 UTSW 12 81,377,747 (GRCm38) nonsense probably null
R0220:Gm4787 UTSW 12 81,378,648 (GRCm38) missense probably damaging 0.98
R0304:Gm4787 UTSW 12 81,378,934 (GRCm38) missense probably damaging 1.00
R0513:Gm4787 UTSW 12 81,378,312 (GRCm38) missense probably benign 0.03
R1761:Gm4787 UTSW 12 81,377,176 (GRCm38) missense probably benign 0.02
R1809:Gm4787 UTSW 12 81,378,529 (GRCm38) missense possibly damaging 0.91
R1853:Gm4787 UTSW 12 81,378,334 (GRCm38) missense probably damaging 1.00
R1854:Gm4787 UTSW 12 81,378,334 (GRCm38) missense probably damaging 1.00
R2030:Gm4787 UTSW 12 81,378,770 (GRCm38) missense probably damaging 1.00
R2063:Gm4787 UTSW 12 81,378,920 (GRCm38) missense probably benign 0.39
R2112:Gm4787 UTSW 12 81,377,833 (GRCm38) missense probably damaging 1.00
R2140:Gm4787 UTSW 12 81,378,562 (GRCm38) missense probably benign 0.03
R2151:Gm4787 UTSW 12 81,377,219 (GRCm38) missense probably benign 0.00
R2152:Gm4787 UTSW 12 81,377,219 (GRCm38) missense probably benign 0.00
R2342:Gm4787 UTSW 12 81,378,758 (GRCm38) missense possibly damaging 0.91
R2504:Gm4787 UTSW 12 81,379,137 (GRCm38) missense possibly damaging 0.93
R4038:Gm4787 UTSW 12 81,378,358 (GRCm38) missense probably damaging 1.00
R4604:Gm4787 UTSW 12 81,379,213 (GRCm38) missense probably benign 0.17
R4748:Gm4787 UTSW 12 81,378,056 (GRCm38) missense probably damaging 1.00
R4750:Gm4787 UTSW 12 81,378,367 (GRCm38) missense possibly damaging 0.95
R4928:Gm4787 UTSW 12 81,378,838 (GRCm38) missense probably benign 0.03
R4960:Gm4787 UTSW 12 81,379,316 (GRCm38) missense probably damaging 0.99
R4974:Gm4787 UTSW 12 81,377,629 (GRCm38) missense probably damaging 0.99
R5028:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5029:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5031:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5098:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5099:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5100:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5101:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5135:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5152:Gm4787 UTSW 12 81,378,677 (GRCm38) missense probably benign 0.02
R5180:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5220:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5257:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5258:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5297:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5324:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5325:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5355:Gm4787 UTSW 12 81,377,465 (GRCm38) nonsense probably null
R5364:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5396:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5397:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5398:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5514:Gm4787 UTSW 12 81,378,328 (GRCm38) missense possibly damaging 0.90
R5634:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5666:Gm4787 UTSW 12 81,378,031 (GRCm38) missense probably benign 0.23
R5670:Gm4787 UTSW 12 81,378,031 (GRCm38) missense probably benign 0.23
R5787:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R5788:Gm4787 UTSW 12 81,377,830 (GRCm38) missense probably benign 0.01
R6354:Gm4787 UTSW 12 81,377,981 (GRCm38) missense probably damaging 1.00
R6932:Gm4787 UTSW 12 81,379,200 (GRCm38) missense probably benign 0.04
R7120:Gm4787 UTSW 12 81,378,486 (GRCm38) missense probably benign 0.00
R7237:Gm4787 UTSW 12 81,377,668 (GRCm38) missense probably damaging 0.99
R7937:Gm4787 UTSW 12 81,377,905 (GRCm38) missense probably benign 0.01
R8022:Gm4787 UTSW 12 81,377,720 (GRCm38) missense possibly damaging 0.94
R8140:Gm4787 UTSW 12 81,378,151 (GRCm38) missense probably benign 0.00
R8314:Gm4787 UTSW 12 81,379,135 (GRCm38) missense probably damaging 1.00
R8480:Gm4787 UTSW 12 81,377,506 (GRCm38) missense probably damaging 1.00
R8498:Gm4787 UTSW 12 81,379,066 (GRCm38) missense probably damaging 1.00
R8515:Gm4787 UTSW 12 81,377,269 (GRCm38) missense probably benign 0.00
R9103:Gm4787 UTSW 12 81,378,715 (GRCm38) missense probably benign 0.06
R9457:Gm4787 UTSW 12 81,379,246 (GRCm38) missense probably damaging 1.00
R9557:Gm4787 UTSW 12 81,379,300 (GRCm38) nonsense probably null
R9608:Gm4787 UTSW 12 81,378,312 (GRCm38) missense probably benign 0.03
V7580:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
V7581:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
V7582:Gm4787 UTSW 12 81,377,567 (GRCm38) nonsense probably null
Posted On 2015-04-16