Incidental Mutation 'R1592:Spty2d1'
ID 175672
Institutional Source Beutler Lab
Gene Symbol Spty2d1
Ensembl Gene ENSMUSG00000049516
Gene Name SPT2 chromatin protein domain containing 1
Synonyms 5830435K17Rik
MMRRC Submission 039629-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R1592 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 46640144-46658159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46648637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 97 (D97E)
Ref Sequence ENSEMBL: ENSMUSP00000059457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061639]
AlphaFold Q68FG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000061639
AA Change: D97E

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: D97E

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
coiled coil region 45 82 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 199 215 N/A INTRINSIC
low complexity region 218 231 N/A INTRINSIC
internal_repeat_1 283 336 4.09e-5 PROSPERO
low complexity region 338 353 N/A INTRINSIC
internal_repeat_1 366 420 4.09e-5 PROSPERO
low complexity region 434 468 N/A INTRINSIC
low complexity region 490 504 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
SPT2 573 680 1.3e-32 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 100% (51/51)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,783,444 (GRCm39) E327G probably damaging Het
Acp5 A T 9: 22,039,147 (GRCm39) W189R probably damaging Het
Adamts8 T C 9: 30,854,472 (GRCm39) S114P probably damaging Het
Alkbh3 A C 2: 93,838,769 (GRCm39) probably null Het
Ankrd13d T C 19: 4,332,919 (GRCm39) H27R probably benign Het
Aox1 A G 1: 58,339,853 (GRCm39) N382S probably benign Het
Aspg G A 12: 112,086,406 (GRCm39) R220Q probably benign Het
Atg16l2 C A 7: 100,941,193 (GRCm39) G403V probably damaging Het
Bcat1 G T 6: 144,955,784 (GRCm39) Q299K probably benign Het
Cc2d1b C T 4: 108,483,868 (GRCm39) probably benign Het
Cdh26 T C 2: 178,091,684 (GRCm39) F81S probably damaging Het
Cnbd2 A G 2: 156,177,322 (GRCm39) I222M probably benign Het
Ephb3 T C 16: 21,040,450 (GRCm39) V562A probably damaging Het
Fam186a T C 15: 99,838,199 (GRCm39) T2682A probably benign Het
Fat2 T C 11: 55,182,696 (GRCm39) probably null Het
Fat4 A T 3: 39,061,326 (GRCm39) D4303V probably damaging Het
Fbln1 T A 15: 85,115,665 (GRCm39) S234T probably benign Het
Gldc G A 19: 30,138,077 (GRCm39) probably benign Het
Gli1 A C 10: 127,167,198 (GRCm39) V685G probably damaging Het
H2-T22 T C 17: 36,352,469 (GRCm39) N152S probably damaging Het
Inpp5d A T 1: 87,593,254 (GRCm39) D118V possibly damaging Het
Ints10 A G 8: 69,255,555 (GRCm39) I182V possibly damaging Het
Ipcef1 C T 10: 6,885,182 (GRCm39) probably null Het
Kcnj3 G T 2: 55,327,898 (GRCm39) R229L probably damaging Het
Klf11 C A 12: 24,703,737 (GRCm39) D57E probably damaging Het
Krt73 G T 15: 101,710,674 (GRCm39) S20* probably null Het
Lactbl1 A G 4: 136,363,187 (GRCm39) probably null Het
Mapk10 T C 5: 103,186,487 (GRCm39) D45G possibly damaging Het
Mfrp G A 9: 44,014,519 (GRCm39) C222Y probably damaging Het
Mga A T 2: 119,795,147 (GRCm39) I2944F possibly damaging Het
Msh2 A G 17: 87,987,441 (GRCm39) probably null Het
Nckap1l T A 15: 103,390,607 (GRCm39) probably null Het
Or5m9 A G 2: 85,877,333 (GRCm39) N169S probably benign Het
Pitpnm1 T A 19: 4,156,964 (GRCm39) probably null Het
Sik2 C T 9: 50,906,971 (GRCm39) V85I probably damaging Het
Slc26a7 T A 4: 14,552,470 (GRCm39) E229V probably benign Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Uggt1 C A 1: 36,241,939 (GRCm39) A332S probably benign Het
Usp53 A T 3: 122,727,699 (GRCm39) L961* probably null Het
Vmn1r223 A T 13: 23,433,837 (GRCm39) T144S possibly damaging Het
Wdfy1 G A 1: 79,683,972 (GRCm39) R388C probably damaging Het
Zfp995 T A 17: 22,106,321 (GRCm39) M1L probably damaging Het
Other mutations in Spty2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Spty2d1 APN 7 46,648,735 (GRCm39) missense probably damaging 1.00
IGL01763:Spty2d1 APN 7 46,649,596 (GRCm39) missense probably damaging 0.99
IGL01988:Spty2d1 APN 7 46,647,358 (GRCm39) missense probably damaging 0.99
IGL02149:Spty2d1 APN 7 46,657,892 (GRCm39) utr 5 prime probably benign
IGL02236:Spty2d1 APN 7 46,647,360 (GRCm39) missense probably benign 0.02
IGL02273:Spty2d1 APN 7 46,647,321 (GRCm39) missense probably damaging 0.97
3-1:Spty2d1 UTSW 7 46,648,425 (GRCm39) missense probably damaging 1.00
R0184:Spty2d1 UTSW 7 46,647,322 (GRCm39) missense possibly damaging 0.94
R0201:Spty2d1 UTSW 7 46,647,649 (GRCm39) nonsense probably null
R2116:Spty2d1 UTSW 7 46,645,933 (GRCm39) missense probably damaging 1.00
R2171:Spty2d1 UTSW 7 46,644,361 (GRCm39) missense probably damaging 1.00
R2898:Spty2d1 UTSW 7 46,643,100 (GRCm39) missense unknown
R3857:Spty2d1 UTSW 7 46,648,044 (GRCm39) missense probably benign 0.04
R4080:Spty2d1 UTSW 7 46,648,329 (GRCm39) missense probably damaging 0.99
R4319:Spty2d1 UTSW 7 46,647,883 (GRCm39) missense probably damaging 0.99
R4732:Spty2d1 UTSW 7 46,645,858 (GRCm39) missense probably damaging 1.00
R4733:Spty2d1 UTSW 7 46,645,858 (GRCm39) missense probably damaging 1.00
R5317:Spty2d1 UTSW 7 46,648,049 (GRCm39) missense possibly damaging 0.61
R5485:Spty2d1 UTSW 7 46,647,633 (GRCm39) missense possibly damaging 0.76
R5711:Spty2d1 UTSW 7 46,647,845 (GRCm39) missense possibly damaging 0.84
R5761:Spty2d1 UTSW 7 46,648,032 (GRCm39) missense probably damaging 1.00
R6418:Spty2d1 UTSW 7 46,647,751 (GRCm39) missense probably damaging 1.00
R7182:Spty2d1 UTSW 7 46,648,271 (GRCm39) missense probably benign 0.09
R7372:Spty2d1 UTSW 7 46,648,692 (GRCm39) missense probably damaging 1.00
R7798:Spty2d1 UTSW 7 46,645,804 (GRCm39) missense probably damaging 1.00
R8229:Spty2d1 UTSW 7 46,647,522 (GRCm39) missense probably benign 0.08
R8670:Spty2d1 UTSW 7 46,647,519 (GRCm39) missense probably benign 0.00
R9314:Spty2d1 UTSW 7 46,648,486 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTTTGGAAGCAAGCTGCCTG -3'
(R):5'- CGCTGCTATGCTGACACTGTTGAG -3'

Sequencing Primer
(F):5'- GCCTCAGTAAGTCAGTGAAGTTC -3'
(R):5'- ACACTGTTGAGGTGATGTGCTC -3'
Posted On 2014-04-24