Incidental Mutation 'IGL00325:Utp14b'
| ID |
7438 |
| 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 # |
IGL00325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78642262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 53
(S53R)
|
| 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 |
probably damaging
Transcript: ENSMUST00000053760
AA Change: S53R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: S53R
| 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 |
probably damaging
Transcript: ENSMUST00000151622
AA Change: S53R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: S53R
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
| Arid1b |
C |
A |
17: 5,387,385 (GRCm39) |
R1613S |
possibly damaging |
Het |
| Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
| Bag3 |
C |
A |
7: 128,148,065 (GRCm39) |
T560K |
probably benign |
Het |
| BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
| Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
| C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
C |
T |
8: 46,623,222 (GRCm39) |
S204L |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
| Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,465,111 (GRCm39) |
I360N |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gulo |
G |
T |
14: 66,243,398 (GRCm39) |
A40D |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
| Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
| Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
| Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
| Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
| Ppp1r35 |
T |
A |
5: 137,777,799 (GRCm39) |
V155E |
probably damaging |
Het |
| Prss36 |
T |
A |
7: 127,544,099 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
| Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
| Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
| Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
| Other mutations in Utp14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation