Incidental Mutation 'R1180:Utp14b'
ID 101442
Institutional Source Beutler Lab
Gene Symbol Utp14b
Ensembl Gene ENSMUSG00000079470
Gene Name UTP14B small subunit processome component
Synonyms 4932411L21Rik, jsd
MMRRC Submission 039252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1180 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 78635600-78645305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78643162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 353 (N353K)
Ref Sequence ENSEMBL: ENSMUSP00000121391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000053760] [ENSMUST00000134566] [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 damaging
Transcript: ENSMUST00000053760
AA Change: N353K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: N353K

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: 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 damaging
Transcript: ENSMUST00000151622
AA Change: N353K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: N353K

DomainStartEndE-ValueType
Pfam:Utp14 45 743 6e-163 PFAM
low complexity region 758 778 N/A INTRINSIC
Meta Mutation Damage Score 0.1564 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.5%
Validation Efficiency 98% (55/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,141 (GRCm39) D281E probably benign Het
Adam24 T G 8: 41,134,467 (GRCm39) V645G probably damaging Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Cadps A G 14: 12,457,836 (GRCm38) probably benign Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Chd8 A C 14: 52,458,565 (GRCm39) S848A probably damaging Het
Col6a3 T C 1: 90,709,577 (GRCm39) K1873R unknown Het
Cpd T C 11: 76,692,579 (GRCm39) T753A possibly damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Dock4 A G 12: 40,690,413 (GRCm39) E173G possibly damaging Het
EU599041 G A 7: 42,875,731 (GRCm39) noncoding transcript Het
Fer1l6 G A 15: 58,474,160 (GRCm39) probably benign Het
Flt3 T C 5: 147,278,048 (GRCm39) D842G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Fsip2 T C 2: 82,805,570 (GRCm39) Y630H probably damaging Het
Gprin3 C A 6: 59,331,921 (GRCm39) V129F possibly damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hoxa3 A C 6: 52,147,382 (GRCm39) Y290* probably null Het
Htra4 G T 8: 25,523,735 (GRCm39) L277I probably damaging Het
Jak2 A G 19: 29,259,899 (GRCm39) Y266C probably damaging Het
Kif6 T A 17: 50,139,284 (GRCm39) probably benign Het
Kiz C T 2: 146,811,927 (GRCm39) R679C unknown Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mipep G A 14: 61,071,505 (GRCm39) V537I probably damaging Het
Mrpl44 T A 1: 79,755,677 (GRCm39) N94K probably damaging Het
Mstn A T 1: 53,103,167 (GRCm39) T168S possibly damaging Het
Mx2 G A 16: 97,357,209 (GRCm39) R434H probably damaging Het
Myh6 A G 14: 55,181,925 (GRCm39) I1792T possibly damaging Het
Myo16 T C 8: 10,446,908 (GRCm39) S450P probably damaging Het
Nherf4 T A 9: 44,160,543 (GRCm39) D284V probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Psmd8 A T 7: 28,874,825 (GRCm39) V248E probably benign Het
Ranbp2 A G 10: 58,301,285 (GRCm39) Y646C probably damaging Het
Samsn1 C T 16: 75,670,536 (GRCm39) G189E probably damaging Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Sfmbt2 C T 2: 10,406,877 (GRCm39) H59Y probably damaging Het
Shb T C 4: 45,423,996 (GRCm39) I486V possibly damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Spag16 G A 1: 69,962,817 (GRCm39) probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tk1 A G 11: 117,712,921 (GRCm39) probably null Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ube2q2 T C 9: 55,102,700 (GRCm39) probably benign Het
Zfp474 C T 18: 52,771,814 (GRCm39) Q156* probably null 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
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
R1641:Utp14b UTSW 1 78,643,656 (GRCm39) missense probably benign 0.08
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'- GGAAAGACTGCCCAAATGCTGC -3'
(R):5'- TCCCTCACTCTCAGAAGACACATGG -3'

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