Incidental Mutation 'R1641:Utp14b'
ID 173509
Institutional Source Beutler Lab
Gene Symbol Utp14b
Ensembl Gene ENSMUSG00000079470
Gene Name UTP14B small subunit processome component
Synonyms 4932411L21Rik, jsd
MMRRC Submission 039677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1641 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 78635600-78645305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78643656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 518 (V518A)
Ref Sequence ENSEMBL: ENSMUSP00000121391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000053760] [ENSMUST00000134566] [ENSMUST00000135642] [ENSMUST00000142704] [ENSMUST00000151622]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035779
SMART Domains Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 113 587 2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053760
AA Change: V518A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: V518A

DomainStartEndE-ValueType
Pfam:Utp14 39 744 6.4e-205 PFAM
low complexity region 758 778 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134566
SMART Domains Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883

DomainStartEndE-ValueType
Pfam:AMP-binding 1 435 4.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135642
SMART Domains Protein: ENSMUSP00000116576
Gene: ENSMUSG00000032883

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142704
SMART Domains Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:AMP-binding 113 587 2.5e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151622
AA Change: V518A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: V518A

DomainStartEndE-ValueType
Pfam:Utp14 45 743 6e-163 PFAM
low complexity region 758 778 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous males are sterile with spermatogonial arrest and elevated intratesticular testosterone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,039,626 (GRCm39) T228S probably benign Het
Adamts2 C T 11: 50,683,612 (GRCm39) P965S probably damaging Het
Ankrd11 A G 8: 123,618,485 (GRCm39) I1768T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Baz2b A T 2: 59,743,234 (GRCm39) L1579Q probably damaging Het
Btbd7 A G 12: 102,757,034 (GRCm39) V684A probably damaging Het
Camk1g T A 1: 193,038,665 (GRCm39) I86F probably benign Het
Capn13 A T 17: 73,689,889 (GRCm39) S41T possibly damaging Het
Cep192 C A 18: 67,980,504 (GRCm39) L1422I probably damaging Het
Chaf1a T C 17: 56,354,380 (GRCm39) F217L unknown Het
Clca3b A T 3: 144,529,274 (GRCm39) M800K possibly damaging Het
Cplane1 A G 15: 8,258,443 (GRCm39) T2230A probably benign Het
Crocc A G 4: 140,744,388 (GRCm39) V1836A probably benign Het
Csmd2 G A 4: 128,377,188 (GRCm39) V2023M possibly damaging Het
Cul9 A G 17: 46,854,486 (GRCm39) V72A possibly damaging Het
Ddx52 T C 11: 83,834,269 (GRCm39) probably null Het
Dennd5b A C 6: 148,969,703 (GRCm39) V250G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gtpbp4 A T 13: 9,023,285 (GRCm39) M593K probably benign Het
Il21 A G 3: 37,286,681 (GRCm39) F12L probably benign Het
Lrit2 T A 14: 36,791,105 (GRCm39) N261K probably benign Het
Lrrc39 G T 3: 116,364,562 (GRCm39) C151F probably damaging Het
Lsm14a C A 7: 34,050,799 (GRCm39) R426L probably damaging Het
Maml1 G A 11: 50,157,774 (GRCm39) P134S probably benign Het
Map3k13 T C 16: 21,722,542 (GRCm39) C235R probably damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nsmaf T C 4: 6,409,884 (GRCm39) E663G probably benign Het
Ntrk3 T C 7: 78,005,822 (GRCm39) N513S probably damaging Het
Nufip1 T G 14: 76,363,692 (GRCm39) N305K possibly damaging Het
Or10al5 C T 17: 38,062,916 (GRCm39) T57I possibly damaging Het
Or2ag1b T A 7: 106,288,918 (GRCm39) T7S probably benign Het
Or4c10b A T 2: 89,711,745 (GRCm39) T192S probably benign Het
Or51a6 T A 7: 102,604,175 (GRCm39) D218V probably benign Het
Or9r3 A T 10: 129,947,872 (GRCm39) Y262* probably null Het
Pi4ka A G 16: 17,194,894 (GRCm39) V168A probably benign Het
Prex2 T C 1: 11,301,996 (GRCm39) V1433A probably damaging Het
Prl7a1 A T 13: 27,817,612 (GRCm39) D217E probably damaging Het
Prr3 G A 17: 36,285,484 (GRCm39) R86* probably null Het
Ptprz1 T C 6: 23,049,605 (GRCm39) F1350L probably damaging Het
R3hcc1l T C 19: 42,552,046 (GRCm39) S348P possibly damaging Het
Rag2 A T 2: 101,459,960 (GRCm39) Q90L probably benign Het
Scel T C 14: 103,770,752 (GRCm39) L62P probably damaging Het
Serpini1 A T 3: 75,521,977 (GRCm39) E156V possibly damaging Het
Skint4 T A 4: 111,993,240 (GRCm39) I321K possibly damaging Het
Slc28a2 A G 2: 122,286,098 (GRCm39) D478G probably damaging Het
Sppl2b G T 10: 80,700,965 (GRCm39) V164F probably damaging Het
Traf5 T A 1: 191,729,470 (GRCm39) N527I probably benign Het
Ttc3 T A 16: 94,244,176 (GRCm39) D17E probably benign Het
Txlnb G A 10: 17,682,521 (GRCm39) A148T possibly damaging Het
Ubtf A G 11: 102,201,757 (GRCm39) Y256H probably damaging Het
Usp25 T C 16: 76,868,559 (GRCm39) F320S possibly damaging Het
Utp20 A G 10: 88,593,834 (GRCm39) V2192A possibly damaging Het
Vmn1r173 T A 7: 23,402,533 (GRCm39) M256K probably benign Het
Vmn2r114 T A 17: 23,515,962 (GRCm39) M510L probably benign Het
Xdh T A 17: 74,233,547 (GRCm39) Q189L probably benign Het
Zfat C T 15: 68,051,959 (GRCm39) A605T probably benign Het
Other mutations in Utp14b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Utp14b APN 1 78,642,262 (GRCm39) missense probably damaging 1.00
IGL01837:Utp14b APN 1 78,642,636 (GRCm39) missense probably damaging 1.00
IGL02895:Utp14b APN 1 78,642,324 (GRCm39) missense possibly damaging 0.61
IGL03165:Utp14b APN 1 78,642,237 (GRCm39) missense probably damaging 0.97
IGL03210:Utp14b APN 1 78,643,268 (GRCm39) missense probably benign 0.02
R0662:Utp14b UTSW 1 78,642,716 (GRCm39) missense probably damaging 1.00
R0671:Utp14b UTSW 1 78,642,452 (GRCm39) missense probably benign 0.00
R0736:Utp14b UTSW 1 78,642,989 (GRCm39) missense probably damaging 1.00
R1180:Utp14b UTSW 1 78,643,162 (GRCm39) missense probably damaging 1.00
R1430:Utp14b UTSW 1 78,644,111 (GRCm39) missense probably benign 0.25
R1448:Utp14b UTSW 1 78,643,162 (GRCm39) missense probably damaging 1.00
R1867:Utp14b UTSW 1 78,643,148 (GRCm39) missense probably damaging 1.00
R3054:Utp14b UTSW 1 78,642,442 (GRCm39) missense possibly damaging 0.91
R3055:Utp14b UTSW 1 78,642,442 (GRCm39) missense possibly damaging 0.91
R3056:Utp14b UTSW 1 78,642,442 (GRCm39) missense possibly damaging 0.91
R3426:Utp14b UTSW 1 78,643,056 (GRCm39) missense probably damaging 1.00
R3744:Utp14b UTSW 1 78,642,973 (GRCm39) missense probably benign 0.03
R4204:Utp14b UTSW 1 78,642,539 (GRCm39) missense probably benign 0.12
R5570:Utp14b UTSW 1 78,643,118 (GRCm39) missense probably damaging 1.00
R5574:Utp14b UTSW 1 78,644,126 (GRCm39) missense probably damaging 1.00
R5958:Utp14b UTSW 1 78,642,660 (GRCm39) missense probably damaging 1.00
R5958:Utp14b UTSW 1 78,642,659 (GRCm39) nonsense probably null
R6173:Utp14b UTSW 1 78,643,557 (GRCm39) missense probably benign 0.00
R6173:Utp14b UTSW 1 78,643,554 (GRCm39) missense probably benign 0.03
R7258:Utp14b UTSW 1 78,642,691 (GRCm39) missense probably benign 0.30
R7784:Utp14b UTSW 1 78,642,660 (GRCm39) missense probably damaging 0.96
R8697:Utp14b UTSW 1 78,644,244 (GRCm39) missense probably benign
R8983:Utp14b UTSW 1 78,643,003 (GRCm39) missense probably benign 0.03
R9119:Utp14b UTSW 1 78,643,025 (GRCm39) missense probably damaging 0.98
R9574:Utp14b UTSW 1 78,643,482 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCGATCCTGAACAGATGCCTGAG -3'
(R):5'- ATTGTGGGCACAGCCAAAGACC -3'

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