Incidental Mutation 'R3055:Utp14b'
ID |
265109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp14b
|
Ensembl Gene |
ENSMUSG00000079470 |
Gene Name |
UTP14B small subunit processome component |
Synonyms |
4932411L21Rik, jsd |
MMRRC Submission |
040564-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3055 (G1)
|
Quality Score |
225 |
Status
|
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: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
A |
G |
14: 4,348,878 (GRCm38) |
E13G |
probably damaging |
Het |
5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
Abca16 |
A |
G |
7: 120,035,074 (GRCm39) |
M287V |
probably benign |
Het |
Abca7 |
G |
A |
10: 79,835,581 (GRCm39) |
R283H |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,953,535 (GRCm39) |
I126V |
probably damaging |
Het |
Ahrr |
A |
G |
13: 74,373,006 (GRCm39) |
V148A |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
Atp6v0a2 |
T |
A |
5: 124,765,209 (GRCm39) |
|
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,271,206 (GRCm39) |
D248G |
probably benign |
Het |
Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly 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 |
Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
Ddx25 |
A |
G |
9: 35,462,647 (GRCm39) |
V246A |
probably damaging |
Het |
Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
Dscam |
G |
A |
16: 96,602,555 (GRCm39) |
T629I |
probably damaging |
Het |
Evi5l |
C |
T |
8: 4,241,603 (GRCm39) |
R311* |
probably null |
Het |
Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
Gldn |
A |
T |
9: 54,245,807 (GRCm39) |
T453S |
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 |
Lgr5 |
T |
A |
10: 115,302,028 (GRCm39) |
|
probably benign |
Het |
Mier3 |
T |
A |
13: 111,827,837 (GRCm39) |
D7E |
probably damaging |
Het |
Mms19 |
A |
T |
19: 41,938,527 (GRCm39) |
|
probably benign |
Het |
Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,358,386 (GRCm39) |
Y950C |
probably benign |
Het |
Or4d2 |
A |
G |
11: 87,784,198 (GRCm39) |
V184A |
possibly damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,471 (GRCm39) |
F125S |
possibly damaging |
Het |
Or8b12b |
G |
T |
9: 37,684,489 (GRCm39) |
C178F |
probably damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,795,054 (GRCm39) |
|
probably null |
Het |
Prune2 |
A |
G |
19: 17,102,407 (GRCm39) |
E2522G |
probably damaging |
Het |
Radil |
T |
C |
5: 142,481,161 (GRCm39) |
T549A |
possibly damaging |
Het |
Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
Rasa2 |
G |
A |
9: 96,493,526 (GRCm39) |
L53F |
possibly damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,165,583 (GRCm39) |
F306L |
probably damaging |
Het |
Rbm19 |
C |
T |
5: 120,271,075 (GRCm39) |
R633C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,280,366 (GRCm39) |
L353H |
probably damaging |
Het |
Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
Stil |
T |
A |
4: 114,871,266 (GRCm39) |
|
probably benign |
Het |
Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
Ugt2b35 |
A |
T |
5: 87,149,457 (GRCm39) |
Y236F |
probably benign |
Het |
Vmn1r121 |
G |
A |
7: 20,832,390 (GRCm39) |
Q17* |
probably null |
Het |
Vmn2r28 |
A |
T |
7: 5,484,391 (GRCm39) |
L603Q |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
probably benign |
Het |
Yae1d1 |
T |
C |
13: 18,167,827 (GRCm39) |
E22G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTATCCACTGAGTACGAGTG -3'
(R):5'- AAATCAACTGCTCTGCCTGC -3'
Sequencing Primer
(F):5'- CTATCCACTGAGTACGAGTGAAGATG -3'
(R):5'- GTTCTTCAGAACCACCGGATC -3'
|
Posted On |
2015-02-05 |