Incidental Mutation 'R5958:Utp14b'
ID 471259
Institutional Source Beutler Lab
Gene Symbol Utp14b
Ensembl Gene ENSMUSG00000079470
Gene Name UTP14B small subunit processome component
Synonyms 4932411L21Rik, jsd
MMRRC Submission 044145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5958 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 78635600-78645305 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 78642659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 186 (K186*)
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 null
Transcript: ENSMUST00000053760
AA Change: K186*
SMART Domains Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: K186*

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 null
Transcript: ENSMUST00000151622
AA Change: K186*
SMART Domains Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: K186*

DomainStartEndE-ValueType
Pfam:Utp14 45 743 6e-163 PFAM
low complexity region 758 778 N/A INTRINSIC
Meta Mutation Damage Score 0.9751 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
Validation Efficiency 95% (75/79)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,030,367 (GRCm39) D616G probably damaging Het
Adam30 A G 3: 98,069,280 (GRCm39) N243S probably damaging Het
Adck1 A G 12: 88,425,822 (GRCm39) I417V probably benign Het
Adcy4 T C 14: 56,016,556 (GRCm39) probably null Het
Ahctf1 A G 1: 179,574,107 (GRCm39) probably benign Het
Ap1s3 G T 1: 79,591,960 (GRCm39) T130K probably benign Het
Apold1 C T 6: 134,960,686 (GRCm39) R47C probably damaging Het
Atp13a5 T C 16: 29,157,860 (GRCm39) K197E probably damaging Het
Camk2d T G 3: 126,573,514 (GRCm39) probably benign Het
Ccin A G 4: 43,983,854 (GRCm39) D87G probably damaging Het
Cdan1 T C 2: 120,554,383 (GRCm39) T889A possibly damaging Het
Cel T A 2: 28,450,957 (GRCm39) Y102F probably damaging Het
Cma1 A C 14: 56,179,113 (GRCm39) *248E probably null Het
Cnbd1 T C 4: 18,862,056 (GRCm39) N378S probably benign Het
Col18a1 T A 10: 76,932,231 (GRCm39) Y533F probably benign Het
Cpb2 T C 14: 75,520,827 (GRCm39) I414T probably damaging Het
Dagla T C 19: 10,225,788 (GRCm39) Y792C probably damaging Het
Dlgap5 T A 14: 47,651,211 (GRCm39) E107D probably damaging Het
Dmtf1 T A 5: 9,172,415 (GRCm39) probably benign Het
Dst A G 1: 34,225,131 (GRCm39) K1682R probably damaging Het
Epyc A T 10: 97,485,704 (GRCm39) H48L probably benign Het
Fam135b A G 15: 71,334,744 (GRCm39) S817P Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxk1 T C 5: 142,442,429 (GRCm39) V693A probably benign Het
Fuom A T 7: 139,679,811 (GRCm39) F122I probably damaging Het
Glg1 G T 8: 111,985,736 (GRCm39) H31Q probably benign Het
Gm13199 C T 2: 5,867,065 (GRCm39) probably benign Het
Hdac9 G T 12: 34,423,882 (GRCm39) Q595K probably damaging Het
Homez C T 14: 55,094,298 (GRCm39) R119Q probably benign Het
Ifit3b A G 19: 34,589,142 (GRCm39) H106R probably benign Het
Ift57 C T 16: 49,531,471 (GRCm39) probably benign Het
Itk A T 11: 46,235,682 (GRCm39) probably benign Het
Katnip A G 7: 125,412,807 (GRCm39) K358E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhdc3 A T 17: 46,986,028 (GRCm39) V378D probably benign Het
Klhl14 A G 18: 21,698,592 (GRCm39) I407T probably damaging Het
Meioc A T 11: 102,565,979 (GRCm39) T476S probably benign Het
Olfm3 G A 3: 114,915,955 (GRCm39) V276I probably damaging Het
Or5b24 T C 19: 12,912,411 (GRCm39) F103S probably damaging Het
Pcm1 T C 8: 41,782,016 (GRCm39) L1972P probably damaging Het
Pcsk6 A G 7: 65,693,359 (GRCm39) E3G probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Pik3c2a A G 7: 115,961,799 (GRCm39) L1010S probably damaging Het
Pitpnm3 G T 11: 72,003,193 (GRCm39) probably null Het
Prrc2b A G 2: 32,102,092 (GRCm39) M722V possibly damaging Het
Rad18 T C 6: 112,673,603 (GRCm39) probably benign Het
Senp6 T C 9: 80,049,576 (GRCm39) S1036P probably damaging Het
Slc22a22 C T 15: 57,126,932 (GRCm39) A46T possibly damaging Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spag6l C A 16: 16,580,885 (GRCm39) probably null Het
Strc T C 2: 121,207,403 (GRCm39) H656R possibly damaging Het
Tanc2 A G 11: 105,731,451 (GRCm39) D409G probably benign Het
Thap11 A G 8: 106,582,696 (GRCm39) H235R probably damaging Het
Thsd7a T A 6: 12,337,261 (GRCm39) Y1252F probably benign Het
Tlr11 T G 14: 50,598,234 (GRCm39) N73K probably damaging Het
Ttll10 T C 4: 156,120,523 (GRCm39) probably null Het
Ubr4 A T 4: 139,182,949 (GRCm39) N445I probably damaging Het
Ugt1a6a C T 1: 88,143,510 (GRCm39) probably benign Het
Urb2 T C 8: 124,756,398 (GRCm39) F702L probably benign Het
Vmn2r16 T A 5: 109,510,153 (GRCm39) M512K possibly damaging Het
Vmn2r27 T A 6: 124,208,686 (GRCm39) M20L 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
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
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'- AAGCTGGTCCTTTCCGATTTGC -3'
(R):5'- TGGCTTCTTCCAGGCTCATG -3'

Sequencing Primer
(F):5'- ACAGCATTATCTTCGGTGGC -3'
(R):5'- AGGCTCATGGCTCTGATGGAG -3'
Posted On 2017-03-31