Incidental Mutation 'IGL02567:Fam189a1'
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ID298872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam189a1
Ensembl Gene ENSMUSG00000030518
Gene Namefamily with sequence similarity 189, member A1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02567
Quality Score
Status
Chromosome7
Chromosomal Location64756091-65156570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 64786731 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 101 (M101L)
Ref Sequence ENSEMBL: ENSMUSP00000115095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119118] [ENSMUST00000148459] [ENSMUST00000149851]
Predicted Effect possibly damaging
Transcript: ENSMUST00000119118
AA Change: M197L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: M197L

DomainStartEndE-ValueType
Pfam:CD20 34 199 4.9e-33 PFAM
low complexity region 243 259 N/A INTRINSIC
low complexity region 356 374 N/A INTRINSIC
low complexity region 378 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148459
AA Change: M160L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000116119
Gene: ENSMUSG00000030518
AA Change: M160L

DomainStartEndE-ValueType
Pfam:CD20 34 162 1.8e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000149851
AA Change: M101L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518
AA Change: M101L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 147 163 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,372,751 S199R possibly damaging Het
Ano1 A G 7: 144,611,625 L621P probably damaging Het
Calcr C T 6: 3,691,564 V404M probably damaging Het
Carmil3 A G 14: 55,498,882 S635G possibly damaging Het
Ccl12 C A 11: 82,102,621 S28R possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr3 T C 12: 33,038,901 N761D probably benign Het
Col14a1 T C 15: 55,344,961 probably null Het
Col28a1 T C 6: 8,014,819 K862R possibly damaging Het
Cyp2c66 C T 19: 39,186,640 probably benign Het
D5Ertd615e T C 5: 45,163,416 noncoding transcript Het
Deup1 T C 9: 15,575,283 E367G probably damaging Het
Dpp8 T G 9: 65,078,776 Y849* probably null Het
Efhc1 T A 1: 20,972,964 V369E probably damaging Het
Epg5 A G 18: 78,033,073 Y2562C probably damaging Het
Fbln5 A G 12: 101,761,800 probably null Het
Frem1 A T 4: 83,000,055 M551K probably damaging Het
Gba2 T C 4: 43,567,281 S889G probably benign Het
Golph3 C T 15: 12,349,421 R176* probably null Het
Got2 A T 8: 95,872,201 F191Y probably benign Het
Gtf2ird2 G T 5: 134,213,048 probably benign Het
Hist4h4 G A 6: 136,804,274 R36W probably damaging Het
Hivep3 A G 4: 120,133,956 T2218A probably damaging Het
Htr1f C T 16: 64,926,248 G227D probably benign Het
Ifi202b C T 1: 173,963,804 S436N possibly damaging Het
Nf1 T A 11: 79,547,143 V2109D probably damaging Het
Opa1 C A 16: 29,588,286 D29E probably benign Het
Papln C T 12: 83,778,837 P631S probably benign Het
Pde4c T A 8: 70,747,921 M352K probably benign Het
Pigu T C 2: 155,331,192 T129A possibly damaging Het
Pla2g4c T A 7: 13,346,040 H424Q probably damaging Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Rbm5 T C 9: 107,744,274 D642G probably damaging Het
Rnf111 T C 9: 70,459,005 T384A probably damaging Het
Scn11a T C 9: 119,804,489 T393A probably damaging Het
Sned1 A T 1: 93,274,347 K619M probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syt9 A G 7: 107,436,661 Y295C probably damaging Het
Taar7f T A 10: 24,050,425 Y306N probably damaging Het
Tmem107 T G 11: 69,071,019 L25V possibly damaging Het
Wdr24 T G 17: 25,824,348 I48S probably damaging Het
Zc3hc1 T C 6: 30,374,849 D231G probably benign Het
Zfp142 T A 1: 74,578,147 S342C possibly damaging Het
Zfp142 T G 1: 74,578,149 K341T possibly damaging Het
Zfp142 T C 1: 74,578,150 K341E possibly damaging Het
Zfp804b T A 5: 6,769,989 I989L probably benign Het
Zfyve9 A C 4: 108,674,523 V1095G probably damaging Het
Other mutations in Fam189a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02053:Fam189a1 APN 7 64819842 missense probably damaging 1.00
thick UTSW 7 64759368 nonsense probably null
R0612:Fam189a1 UTSW 7 64761801 missense probably benign 0.17
R0720:Fam189a1 UTSW 7 64819910 splice site probably benign
R1368:Fam189a1 UTSW 7 64819877 missense probably damaging 1.00
R1716:Fam189a1 UTSW 7 64776885 splice site probably null
R1840:Fam189a1 UTSW 7 64759195 missense probably benign 0.37
R1972:Fam189a1 UTSW 7 64775768 missense possibly damaging 0.91
R1973:Fam189a1 UTSW 7 64775768 missense possibly damaging 0.91
R2201:Fam189a1 UTSW 7 64759393 missense probably benign 0.01
R2230:Fam189a1 UTSW 7 64759222 missense probably damaging 0.97
R2232:Fam189a1 UTSW 7 64759222 missense probably damaging 0.97
R2340:Fam189a1 UTSW 7 64775817 missense probably benign 0.00
R4809:Fam189a1 UTSW 7 64776740 missense probably damaging 1.00
R4923:Fam189a1 UTSW 7 64767691 missense probably benign 0.00
R4928:Fam189a1 UTSW 7 64759368 nonsense probably null
R5556:Fam189a1 UTSW 7 64856209 missense probably damaging 1.00
R5852:Fam189a1 UTSW 7 64775831 missense probably damaging 1.00
R6169:Fam189a1 UTSW 7 64759399 missense probably benign 0.00
R7029:Fam189a1 UTSW 7 64759327 missense probably benign 0.00
R7455:Fam189a1 UTSW 7 64759413 missense probably benign 0.00
R7512:Fam189a1 UTSW 7 65156170 missense probably benign 0.23
Posted On2015-04-16