Incidental Mutation 'R3056:Utp14b'
| ID |
265162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp14b
|
| Ensembl Gene |
ENSMUSG00000079470 |
| Gene Name |
UTP14B small subunit processome component |
| Synonyms |
4932411L21Rik, jsd |
| MMRRC Submission |
040565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78642442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 113
(D113E)
|
| 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: D113E
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: D113E
| 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: D113E
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: D113E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Utp14
|
45 |
743 |
6e-163 |
PFAM |
|
low complexity region
|
758 |
778 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3247 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,127,626 (GRCm39) |
M131K |
probably benign |
Het |
| Agbl1 |
C |
T |
7: 76,416,232 (GRCm39) |
T751M |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,636,146 (GRCm39) |
I510V |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,355 (GRCm39) |
I187T |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,956,709 (GRCm39) |
S376P |
unknown |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,280,491 (GRCm39) |
S2805P |
unknown |
Het |
| Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,869 (GRCm39) |
D3061G |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,138,409 (GRCm39) |
F835S |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,151,272 (GRCm39) |
T228A |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,738,592 (GRCm39) |
T1457K |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Lmx1b |
G |
A |
2: 33,457,297 (GRCm39) |
Q168* |
probably null |
Het |
| Ltbp3 |
C |
A |
19: 5,801,434 (GRCm39) |
N659K |
probably benign |
Het |
| Micos13 |
A |
G |
17: 56,915,889 (GRCm39) |
F55S |
probably damaging |
Het |
| Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,860 (GRCm39) |
N825S |
possibly damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,583 (GRCm39) |
T48S |
probably benign |
Het |
| Or5p67 |
A |
T |
7: 107,922,757 (GRCm39) |
V42E |
possibly damaging |
Het |
| Or8k3b |
C |
A |
2: 86,520,896 (GRCm39) |
C141F |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,912,250 (GRCm39) |
R79Q |
probably damaging |
Het |
| Peg10 |
G |
A |
6: 4,755,029 (GRCm39) |
R270H |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,507,283 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tmem92 |
C |
T |
11: 94,669,873 (GRCm39) |
C86Y |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,011,895 (GRCm39) |
|
probably null |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,344 (GRCm39) |
C1433* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,360 (GRCm39) |
Y405F |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
| Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
probably benign |
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 |
|
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 |
|
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'- AACTATCCACTGAGTACGAGTG -3'
(R):5'- AAAATCAACTGCTCTGCCTGC -3'
Sequencing Primer
(F):5'- CTATCCACTGAGTACGAGTGAAGATG -3'
(R):5'- GTTCTTCAGAACCACCGGATC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation