Incidental Mutation 'IGL02964:Gm42742'
ID365493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm42742
Ensembl Gene ENSMUSG00000107068
Gene Namepredicted gene 42742
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02964
Quality Score
Status
Chromosome7
Chromosomal Location127015051-127021097 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127016846 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 26 (S26T)
Ref Sequence ENSEMBL: ENSMUSP00000146318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133172] [ENSMUST00000159916] [ENSMUST00000161931] [ENSMUST00000162069] [ENSMUST00000165096] [ENSMUST00000200948] [ENSMUST00000202798] [ENSMUST00000202624] [ENSMUST00000206416] [ENSMUST00000202045]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032918
SMART Domains Protein: ENSMUSP00000032918
Gene: ENSMUSG00000030680

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
Pfam:PAXIP1_C 85 217 7.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133172
SMART Domains Protein: ENSMUSP00000119213
Gene: ENSMUSG00000030681

DomainStartEndE-ValueType
Pfam:Vault 25 64 3.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159916
SMART Domains Protein: ENSMUSP00000124520
Gene: ENSMUSG00000045114

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
low complexity region 91 112 N/A INTRINSIC
low complexity region 146 169 N/A INTRINSIC
Pfam:CD225 263 337 3.8e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161728
Predicted Effect probably benign
Transcript: ENSMUST00000161931
SMART Domains Protein: ENSMUSP00000143833
Gene: ENSMUSG00000045114

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162069
SMART Domains Protein: ENSMUSP00000123889
Gene: ENSMUSG00000030680

DomainStartEndE-ValueType
Pfam:PAXIP1_C 1 55 2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165096
SMART Domains Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681

DomainStartEndE-ValueType
Pfam:Vault 122 163 5.4e-18 PFAM
Pfam:Vault 175 215 7.7e-16 PFAM
Pfam:Vault 228 271 7.9e-14 PFAM
Pfam:Vault 333 377 2.8e-16 PFAM
Pfam:MVP_shoulder 528 656 5.9e-55 PFAM
low complexity region 707 720 N/A INTRINSIC
low complexity region 733 749 N/A INTRINSIC
low complexity region 751 761 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172958
SMART Domains Protein: ENSMUSP00000134420
Gene: ENSMUSG00000092534

DomainStartEndE-ValueType
Pfam:PAXIP1_C 1 72 1.7e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000200948
AA Change: S26T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144469
Gene: ENSMUSG00000030680
AA Change: S26T

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
Pfam:PAXIP1_C 85 217 7.2e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201606
Predicted Effect possibly damaging
Transcript: ENSMUST00000202798
AA Change: S26T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144243
Gene: ENSMUSG00000107068
AA Change: S26T

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
Pfam:PAXIP1_C 85 217 7.2e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000202624
AA Change: S26T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144099
Gene: ENSMUSG00000107068
AA Change: S26T

DomainStartEndE-ValueType
low complexity region 64 77 N/A INTRINSIC
Pfam:PAXIP1_C 85 176 5.9e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206416
AA Change: S26T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206511
Predicted Effect probably benign
Transcript: ENSMUST00000202045
SMART Domains Protein: ENSMUSP00000144042
Gene: ENSMUSG00000045114

DomainStartEndE-ValueType
Pfam:CD225 1 52 3.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201686
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,351,810 I1364V possibly damaging Het
Adamts19 T A 18: 58,988,965 I813K probably damaging Het
Adamtsl1 G T 4: 86,424,357 C1703F probably damaging Het
Atp2b4 T A 1: 133,730,565 T536S probably damaging Het
Capg T A 6: 72,562,844 I340N probably damaging Het
Casc3 T A 11: 98,828,923 M567K probably damaging Het
Chmp1a T C 8: 123,208,067 E50G probably damaging Het
Cryba1 T C 11: 77,719,381 probably benign Het
Dnah8 T A 17: 30,746,761 Y2356N probably damaging Het
Ercc6 T G 14: 32,570,103 S1141R probably benign Het
Exd2 T A 12: 80,480,528 V165D probably damaging Het
Fbln1 A T 15: 85,231,462 E233V probably damaging Het
Ftsj3 T C 11: 106,252,337 K384E probably damaging Het
Ggt5 A G 10: 75,604,128 I188V probably benign Het
Gucy1a2 T A 9: 3,759,542 D449E probably damaging Het
Igfbp7 C T 5: 77,351,341 S239N possibly damaging Het
Klf11 C T 12: 24,655,627 A360V probably damaging Het
Kmt2e T A 5: 23,467,100 probably benign Het
Magea8 A T X: 154,986,682 C144S probably damaging Het
Med4 A G 14: 73,517,921 Q223R probably damaging Het
Mmd2 G T 5: 142,569,477 F153L probably damaging Het
Nav3 C A 10: 109,736,953 R1615L probably damaging Het
Nisch A G 14: 31,180,812 probably benign Het
Nr1i3 A T 1: 171,214,395 Y16F probably benign Het
Olfr1134 C A 2: 87,656,714 C69F probably damaging Het
Olfr828 A G 9: 18,815,728 C189R probably damaging Het
Olfr860 G A 9: 19,846,254 R122* probably null Het
Olfr954 A G 9: 39,461,781 T117A possibly damaging Het
Ppil6 C A 10: 41,507,483 H252N probably benign Het
Ppp6r2 C T 15: 89,259,175 P175L probably damaging Het
Psme4 T A 11: 30,791,095 Y90* probably null Het
Rbm20 C A 19: 53,813,702 L214I probably benign Het
Rhox2f T C X: 37,571,681 V24A probably benign Het
Scnm1 T C 3: 95,133,037 K96E probably benign Het
Sec16a A C 2: 26,419,723 D2090E probably benign Het
Smg6 T C 11: 74,930,750 probably null Het
Snx2 T C 18: 53,194,558 S119P probably benign Het
Stam A G 2: 14,115,968 probably benign Het
Sult2b1 T A 7: 45,735,274 E126V probably benign Het
Tor1aip1 T C 1: 156,035,844 E131G probably damaging Het
Ttn C T 2: 76,788,696 C14367Y probably damaging Het
Ubr4 T C 4: 139,407,820 F821S possibly damaging Het
Vmn1r32 T C 6: 66,552,938 N285D probably benign Het
Vmn2r23 T C 6: 123,741,782 L698P possibly damaging Het
Wnt8a T A 18: 34,542,421 L18Q possibly damaging Het
Zfp747 T C 7: 127,374,494 E168G probably benign Het
Posted On2015-12-18