Incidental Mutation 'IGL02895:Utp14b'
ID |
363376 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Utp14b
|
Ensembl Gene |
ENSMUSG00000079470 |
Gene Name |
UTP14B small subunit processome component |
Synonyms |
4932411L21Rik, jsd |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02895
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78642324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
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
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
113 |
587 |
2e-94 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053760
AA Change: V74A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052149 Gene: ENSMUSG00000079470 AA Change: V74A
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
1 |
435 |
4.3e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142704
|
SMART Domains |
Protein: ENSMUSP00000121695 Gene: ENSMUSG00000032883
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
113 |
587 |
2.5e-106 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151622
AA Change: V74A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000121391 Gene: ENSMUSG00000079470 AA Change: V74A
Domain | Start | End | E-Value | Type |
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
C |
T |
1: 179,621,376 (GRCm39) |
E130K |
probably damaging |
Het |
Atf7ip |
C |
A |
6: 136,537,686 (GRCm39) |
S306R |
probably damaging |
Het |
Cpd |
A |
G |
11: 76,676,029 (GRCm39) |
V1208A |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,261,591 (GRCm39) |
|
probably benign |
Het |
Ctsl |
C |
T |
13: 64,514,326 (GRCm39) |
A195T |
probably damaging |
Het |
Dennd2c |
T |
C |
3: 103,044,519 (GRCm39) |
Y367H |
possibly damaging |
Het |
Endod1 |
T |
A |
9: 14,268,166 (GRCm39) |
T440S |
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,612,186 (GRCm39) |
R526G |
probably damaging |
Het |
Ighv1-39 |
T |
C |
12: 114,878,302 (GRCm39) |
T90A |
probably damaging |
Het |
Kdm2a |
G |
A |
19: 4,412,930 (GRCm39) |
R19C |
probably damaging |
Het |
Klra1 |
C |
T |
6: 130,352,203 (GRCm39) |
E180K |
possibly damaging |
Het |
Odam |
A |
G |
5: 88,033,723 (GRCm39) |
Q21R |
probably benign |
Het |
Or4c11c |
A |
G |
2: 88,661,986 (GRCm39) |
Y175C |
probably damaging |
Het |
Or8b8 |
G |
A |
9: 37,809,278 (GRCm39) |
V193I |
probably benign |
Het |
Plk1 |
A |
G |
7: 121,768,389 (GRCm39) |
E504G |
possibly damaging |
Het |
Rtl3 |
T |
C |
X: 105,883,150 (GRCm39) |
I37M |
possibly damaging |
Het |
Srebf2 |
A |
G |
15: 82,031,668 (GRCm39) |
E22G |
possibly damaging |
Het |
Tmem74b |
A |
G |
2: 151,548,311 (GRCm39) |
S13G |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,239,085 (GRCm39) |
M93V |
probably damaging |
Het |
|
Other mutations in Utp14b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2015-12-18 |