Incidental Mutation 'IGL03165:Utp14b'
| ID |
411597 |
| 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 # |
IGL03165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78642237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 45
(D45G)
|
| 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: D45G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: D45G
| 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: D45G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: D45G
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,205,959 (GRCm39) |
Y519F |
probably benign |
Het |
| C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
| Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
| Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
| Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
| Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
| Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
| Erp44 |
C |
T |
4: 48,236,872 (GRCm39) |
|
probably null |
Het |
| Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
| Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
| Fstl3 |
A |
G |
10: 79,615,799 (GRCm39) |
D95G |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
| Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
C |
A |
6: 39,147,848 (GRCm39) |
|
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
| Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
| Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
A |
8: 46,372,035 (GRCm39) |
L360Q |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
| Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
| Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
| Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
| Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
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 |
|
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 |
2016-08-02 |
Incidental Mutation