Incidental Mutation 'R1192:Ints14'
ID 100893
Institutional Source Beutler Lab
Gene Symbol Ints14
Ensembl Gene ENSMUSG00000034263
Gene Name integrator complex subunit 14
Synonyms 2010321M09Rik, Vwa9
MMRRC Submission 039264-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.731) question?
Stock # R1192 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 64868187-64894260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64874045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 99 (V99A)
Ref Sequence ENSEMBL: ENSMUSP00000127420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037504] [ENSMUST00000170517]
AlphaFold Q8R3P6
Predicted Effect possibly damaging
Transcript: ENSMUST00000037504
AA Change: V99A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: V99A

DomainStartEndE-ValueType
VWA 2 181 7.54e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170517
AA Change: V99A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: V99A

DomainStartEndE-ValueType
VWA 2 181 7.54e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215789
Meta Mutation Damage Score 0.2697 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 97% (32/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahrr T A 13: 74,362,522 (GRCm39) M326L probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankmy1 T C 1: 92,811,616 (GRCm39) T591A probably damaging Het
Anks4b A T 7: 119,773,289 (GRCm39) I50L probably benign Het
Arhgef3 C A 14: 27,101,663 (GRCm39) T133N probably damaging Het
Arrdc1 T C 2: 24,816,152 (GRCm39) I284V probably benign Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Ccdc88a T A 11: 29,454,049 (GRCm39) D717E possibly damaging Het
Cdh22 A T 2: 164,977,203 (GRCm39) F439I probably damaging Het
Creld1 G T 6: 113,466,440 (GRCm39) C169F probably damaging Het
Ctsq T A 13: 61,186,859 (GRCm39) N78I probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Eri2 G T 7: 119,391,540 (GRCm39) D41E probably damaging Het
Exosc9 C T 3: 36,606,904 (GRCm39) probably benign Het
Galnt14 C T 17: 73,852,133 (GRCm39) probably benign Het
Gen1 C T 12: 11,305,219 (GRCm39) G192D probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Iqsec1 G A 6: 90,648,958 (GRCm39) probably benign Het
Jarid2 G T 13: 45,060,021 (GRCm39) R713L probably damaging Het
Nans T C 4: 46,502,430 (GRCm39) probably benign Het
Nkiras2 T C 11: 100,516,806 (GRCm39) probably null Het
Obscn A T 11: 58,958,025 (GRCm39) D3558E probably benign Het
Or6c66 C T 10: 129,461,906 (GRCm39) S8N probably benign Het
Palb2 G A 7: 121,727,432 (GRCm39) T146M probably benign Het
Pcgf3 T C 5: 108,634,054 (GRCm39) V104A probably benign Het
Polr3e A G 7: 120,532,531 (GRCm39) D189G probably benign Het
Rfc1 T C 5: 65,451,254 (GRCm39) K278R probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Shcbp1l T A 1: 153,301,253 (GRCm39) I95N possibly damaging Het
Shox2 G A 3: 66,881,243 (GRCm39) Q246* probably null Het
Slc16a4 G C 3: 107,206,189 (GRCm39) E86D probably benign Het
Tubgcp2 A G 7: 139,609,751 (GRCm39) V202A probably benign Het
Other mutations in Ints14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Ints14 APN 9 64,880,074 (GRCm39) missense probably benign 0.30
R0376:Ints14 UTSW 9 64,891,272 (GRCm39) missense probably damaging 0.98
R0589:Ints14 UTSW 9 64,887,113 (GRCm39) missense probably damaging 1.00
R0614:Ints14 UTSW 9 64,871,715 (GRCm39) missense probably benign
R0708:Ints14 UTSW 9 64,891,266 (GRCm39) missense probably benign 0.29
R2114:Ints14 UTSW 9 64,887,077 (GRCm39) missense probably damaging 1.00
R2115:Ints14 UTSW 9 64,887,077 (GRCm39) missense probably damaging 1.00
R2117:Ints14 UTSW 9 64,887,077 (GRCm39) missense probably damaging 1.00
R2484:Ints14 UTSW 9 64,893,366 (GRCm39) missense probably benign
R4811:Ints14 UTSW 9 64,871,800 (GRCm39) missense probably damaging 1.00
R4953:Ints14 UTSW 9 64,889,340 (GRCm39) missense probably damaging 1.00
R5067:Ints14 UTSW 9 64,871,694 (GRCm39) missense probably damaging 1.00
R6080:Ints14 UTSW 9 64,874,044 (GRCm39) missense probably benign 0.02
R6326:Ints14 UTSW 9 64,871,719 (GRCm39) missense probably benign 0.08
R6395:Ints14 UTSW 9 64,885,406 (GRCm39) splice site probably null
R7036:Ints14 UTSW 9 64,871,827 (GRCm39) missense probably benign
R7147:Ints14 UTSW 9 64,891,267 (GRCm39) missense possibly damaging 0.93
R7203:Ints14 UTSW 9 64,871,701 (GRCm39) missense probably damaging 1.00
R8171:Ints14 UTSW 9 64,880,532 (GRCm39) missense possibly damaging 0.90
R9390:Ints14 UTSW 9 64,891,314 (GRCm39) missense probably benign 0.08
R9561:Ints14 UTSW 9 64,882,932 (GRCm39) missense probably damaging 1.00
R9700:Ints14 UTSW 9 64,880,007 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGGCACTGTATCCCCTTTGTAGC -3'
(R):5'- CAGTTCTTAAACTCCACTGTGAGCCC -3'

Sequencing Primer
(F):5'- gccctggctatccttgaac -3'
(R):5'- tccaatactggggcttgaac -3'
Posted On 2014-01-15