Incidental Mutation 'IGL01120:Thyn1'
ID 51956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thyn1
Ensembl Gene ENSMUSG00000035443
Gene Name thymocyte nuclear protein 1
Synonyms Thy28, D730042P09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01120
Quality Score
Status
Chromosome 9
Chromosomal Location 26911006-26918632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26915070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 74 (M74K)
Ref Sequence ENSEMBL: ENSMUSP00000151200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034470] [ENSMUST00000039161] [ENSMUST00000060513] [ENSMUST00000120367] [ENSMUST00000128923] [ENSMUST00000132293] [ENSMUST00000213770] [ENSMUST00000213683]
AlphaFold Q91YJ3
Predicted Effect probably benign
Transcript: ENSMUST00000034470
SMART Domains Protein: ENSMUSP00000034470
Gene: ENSMUSG00000031988

DomainStartEndE-ValueType
Pfam:Vps26 6 281 1e-135 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039161
AA Change: M74K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037614
Gene: ENSMUSG00000035443
AA Change: M74K

DomainStartEndE-ValueType
Pfam:EVE 56 220 3.7e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060513
SMART Domains Protein: ENSMUSP00000054370
Gene: ENSMUSG00000031969

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 40 151 1e-28 PFAM
Pfam:Acyl-CoA_dh_M 155 207 1.8e-23 PFAM
Pfam:Acyl-CoA_dh_1 261 411 2.9e-47 PFAM
Pfam:Acyl-CoA_dh_2 276 399 1.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120367
SMART Domains Protein: ENSMUSP00000112908
Gene: ENSMUSG00000031969

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 40 151 7.8e-29 PFAM
Pfam:Acyl-CoA_dh_M 155 249 3.7e-28 PFAM
Pfam:Acyl-CoA_dh_1 261 411 5.7e-45 PFAM
Pfam:Acyl-CoA_dh_2 276 400 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128923
Predicted Effect probably benign
Transcript: ENSMUST00000132293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138102
Predicted Effect probably benign
Transcript: ENSMUST00000213770
AA Change: M74K

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000213683
AA Change: M74K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214458
Predicted Effect probably benign
Transcript: ENSMUST00000215693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216361
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,040,329 (GRCm39) probably null Het
Armcx5 T C X: 134,647,112 (GRCm39) I396T probably damaging Het
Atm T C 9: 53,372,422 (GRCm39) probably null Het
Atp6v1c2 C T 12: 17,358,294 (GRCm39) E88K probably damaging Het
Caskin1 A G 17: 24,724,343 (GRCm39) T1044A possibly damaging Het
Cyp3a59 T A 5: 146,039,671 (GRCm39) S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 (GRCm39) I240N probably damaging Het
Dnttip2 C T 3: 122,072,386 (GRCm39) probably benign Het
Elavl2 A T 4: 91,152,309 (GRCm39) M136K probably damaging Het
Eml5 C T 12: 98,810,278 (GRCm39) V893I probably benign Het
Fbxw4 G T 19: 45,628,955 (GRCm39) A2E probably benign Het
Flg2 T G 3: 93,108,475 (GRCm39) S168A probably damaging Het
Fndc3a G A 14: 72,794,102 (GRCm39) T857I probably benign Het
Gria1 A G 11: 57,208,495 (GRCm39) K797E probably damaging Het
Herc1 T C 9: 66,336,162 (GRCm39) F1569S probably benign Het
Kash5 G T 7: 44,833,622 (GRCm39) S560Y probably damaging Het
Lrrc45 T C 11: 120,610,836 (GRCm39) V524A probably benign Het
Myo19 T C 11: 84,798,104 (GRCm39) L708P probably damaging Het
Nup107 A G 10: 117,606,146 (GRCm39) probably benign Het
Or10ab4 T G 7: 107,654,774 (GRCm39) M195R probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Palm A G 10: 79,652,621 (GRCm39) probably benign Het
Phf14 T C 6: 11,962,739 (GRCm39) V462A probably damaging Het
Pkhd1l1 G A 15: 44,368,708 (GRCm39) probably null Het
Pkp3 T A 7: 140,664,095 (GRCm39) L424* probably null Het
Prss29 A G 17: 25,541,107 (GRCm39) K184E probably benign Het
Prss3b A T 6: 41,008,607 (GRCm39) Y236N probably damaging Het
Ptcd1 C T 5: 145,089,053 (GRCm39) probably benign Het
Pth1r T C 9: 110,556,198 (GRCm39) H225R probably damaging Het
Rffl C T 11: 82,696,848 (GRCm39) V332I probably damaging Het
Rsl1 T C 13: 67,325,230 (GRCm39) probably benign Het
Scart2 T C 7: 139,876,472 (GRCm39) L648P probably benign Het
Scn9a T C 2: 66,357,316 (GRCm39) K986R probably benign Het
Slc22a15 A G 3: 101,804,482 (GRCm39) L181P probably damaging Het
Slc34a1 T A 13: 55,556,884 (GRCm39) L241H probably damaging Het
Slc4a4 C A 5: 89,280,238 (GRCm39) H354Q probably damaging Het
Sorcs2 T C 5: 36,178,596 (GRCm39) E1131G probably damaging Het
Ssc4d C A 5: 135,996,817 (GRCm39) D95Y probably damaging Het
Tcte1 A T 17: 45,850,594 (GRCm39) D290V probably damaging Het
Tlr4 C T 4: 66,758,662 (GRCm39) T485I probably benign Het
Trem1 A G 17: 48,544,277 (GRCm39) T101A probably benign Het
Ttc17 T C 2: 94,202,141 (GRCm39) E387G probably damaging Het
Vmn2r103 A T 17: 20,013,259 (GRCm39) T127S probably benign Het
Other mutations in Thyn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Conception UTSW 9 26,916,509 (GRCm39) missense probably damaging 1.00
R1747:Thyn1 UTSW 9 26,916,509 (GRCm39) missense probably damaging 1.00
R1858:Thyn1 UTSW 9 26,915,070 (GRCm39) missense probably benign 0.17
R2509:Thyn1 UTSW 9 26,911,316 (GRCm39) missense possibly damaging 0.92
R4407:Thyn1 UTSW 9 26,914,893 (GRCm39) missense possibly damaging 0.94
R5693:Thyn1 UTSW 9 26,916,511 (GRCm39) critical splice donor site probably null
R6998:Thyn1 UTSW 9 26,917,738 (GRCm39) missense probably damaging 0.98
R7219:Thyn1 UTSW 9 26,916,506 (GRCm39) missense probably damaging 1.00
R7703:Thyn1 UTSW 9 26,918,143 (GRCm39) missense probably benign 0.01
R8283:Thyn1 UTSW 9 26,918,155 (GRCm39) missense probably benign 0.12
Posted On 2013-06-21