Incidental Mutation 'IGL03210:Utp14b'
ID413273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp14b
Ensembl Gene ENSMUSG00000079470
Gene NameUTP14B small subunit processome component
Synonyms4932411L21Rik, jsd
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03210
Quality Score
Status
Chromosome1
Chromosomal Location78658038-78671512 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78665551 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 389 (M389V)
Ref Sequence ENSEMBL: ENSMUSP00000121391 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035779] [ENSMUST00000053760] [ENSMUST00000134566] [ENSMUST00000142704] [ENSMUST00000151622]
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: M389V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: M389V

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 benign
Transcript: ENSMUST00000151622
AA Change: M389V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: M389V

DomainStartEndE-ValueType
Pfam:Utp14 45 743 6e-163 PFAM
low complexity region 758 778 N/A INTRINSIC
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,284,438 F9L probably benign Het
Adora3 T C 3: 105,907,860 S163P probably benign Het
C3 G A 17: 57,215,846 Q1013* probably null Het
Cacna1b A T 2: 24,650,572 F1381Y probably benign Het
Dcdc2b T C 4: 129,611,785 K95R probably benign Het
Dnah8 A G 17: 30,815,665 E4186G probably damaging Het
Dock1 T C 7: 134,756,939 V374A possibly damaging Het
Gramd3 A G 18: 56,474,098 T95A probably benign Het
Grk2 C T 19: 4,287,829 E508K probably benign Het
Hmgb4 A G 4: 128,260,742 V11A probably benign Het
Knl1 G A 2: 119,070,617 S933N probably benign Het
Ldlrad3 G A 2: 102,069,926 probably benign Het
Lrrc37a T A 11: 103,499,505 Y1698F probably benign Het
Ms4a14 A G 19: 11,301,961 W1078R possibly damaging Het
Nol4l G A 2: 153,529,458 P102L probably benign Het
Nsun3 A G 16: 62,770,747 F178L probably damaging Het
Nup85 T A 11: 115,566,636 Y55N probably benign Het
Olfr1006 T C 2: 85,674,353 Y266C probably damaging Het
Olfr512 T A 7: 108,713,568 Y60N probably damaging Het
Olfr740 A T 14: 50,453,983 R310S probably benign Het
Opcml A G 9: 28,901,537 E175G probably damaging Het
Pask A T 1: 93,319,992 W1074R possibly damaging Het
Pdzrn3 T C 6: 101,156,952 T439A possibly damaging Het
Pkd1l1 C A 11: 8,965,127 V138L unknown Het
Ptprj C A 2: 90,469,726 V244L probably benign Het
Rapgef5 A G 12: 117,742,872 K697E probably damaging Het
Rnf165 C A 18: 77,466,739 V60L probably damaging Het
Rp9 G T 9: 22,457,428 H78Q probably benign Het
Serpinb8 A G 1: 107,602,911 T140A probably damaging Het
Slc29a4 A T 5: 142,715,108 M203L probably damaging Het
Stag1 T A 9: 100,845,076 L363I possibly damaging Het
Susd1 T G 4: 59,333,035 probably null Het
Thoc3 A T 13: 54,466,222 M196K probably benign Het
Tnr A G 1: 159,888,310 T881A probably benign Het
Ttbk2 A G 2: 120,822,492 V17A probably damaging Het
Ttc41 T A 10: 86,724,414 probably null Het
Utp4 T A 8: 106,916,256 H515Q probably benign Het
Xpo1 A G 11: 23,278,834 H223R probably benign Het
Xpot A G 10: 121,615,227 probably benign Het
Zfp455 A T 13: 67,207,049 H127L possibly damaging Het
Zscan4e T A 7: 11,307,532 M166L probably benign Het
Other mutations in Utp14b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Utp14b APN 1 78664545 missense probably damaging 1.00
IGL01837:Utp14b APN 1 78664919 missense probably damaging 1.00
IGL02895:Utp14b APN 1 78664607 missense possibly damaging 0.61
IGL03165:Utp14b APN 1 78664520 missense probably damaging 0.97
R0662:Utp14b UTSW 1 78664999 missense probably damaging 1.00
R0671:Utp14b UTSW 1 78664735 missense probably benign 0.00
R0736:Utp14b UTSW 1 78665272 missense probably damaging 1.00
R1180:Utp14b UTSW 1 78665445 missense probably damaging 1.00
R1430:Utp14b UTSW 1 78666394 missense probably benign 0.25
R1448:Utp14b UTSW 1 78665445 missense probably damaging 1.00
R1641:Utp14b UTSW 1 78665939 missense probably benign 0.08
R1867:Utp14b UTSW 1 78665431 missense probably damaging 1.00
R3054:Utp14b UTSW 1 78664725 missense possibly damaging 0.91
R3055:Utp14b UTSW 1 78664725 missense possibly damaging 0.91
R3056:Utp14b UTSW 1 78664725 missense possibly damaging 0.91
R3426:Utp14b UTSW 1 78665339 missense probably damaging 1.00
R3744:Utp14b UTSW 1 78665256 missense probably benign 0.03
R4204:Utp14b UTSW 1 78664822 missense probably benign 0.12
R5570:Utp14b UTSW 1 78665401 missense probably damaging 1.00
R5574:Utp14b UTSW 1 78666409 missense probably damaging 1.00
R5958:Utp14b UTSW 1 78664942 nonsense probably null
R5958:Utp14b UTSW 1 78664943 missense probably damaging 1.00
R6173:Utp14b UTSW 1 78665837 missense probably benign 0.03
R6173:Utp14b UTSW 1 78665840 missense probably benign 0.00
R7258:Utp14b UTSW 1 78664974 missense probably benign 0.30
R7784:Utp14b UTSW 1 78664943 missense probably damaging 0.96
Posted On2016-08-02