Incidental Mutation 'IGL01837:Utp14b'
| ID |
154992 |
| 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 # |
IGL01837
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78642636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 178
(E178G)
|
| 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: E178G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: E178G
| 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: E178G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: E178G
| 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 |
|---|
| Abca3 |
T |
C |
17: 24,627,671 (GRCm39) |
F1372L |
probably damaging |
Het |
| Alcam |
T |
A |
16: 52,073,531 (GRCm39) |
N339I |
probably benign |
Het |
| Ankrd35 |
A |
C |
3: 96,587,982 (GRCm39) |
D141A |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,150,492 (GRCm39) |
I1820V |
probably benign |
Het |
| Ccp110 |
T |
A |
7: 118,324,684 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,946,419 (GRCm39) |
D954E |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,313,363 (GRCm39) |
I1347F |
possibly damaging |
Het |
| Ddx10 |
A |
G |
9: 53,140,498 (GRCm39) |
I301T |
probably benign |
Het |
| Defb23 |
T |
A |
2: 152,301,294 (GRCm39) |
M93L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,970,565 (GRCm39) |
|
probably null |
Het |
| Dok3 |
T |
C |
13: 55,671,383 (GRCm39) |
E396G |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,727,055 (GRCm39) |
M1318L |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,343,167 (GRCm39) |
|
probably benign |
Het |
| Gm11992 |
A |
T |
11: 9,011,266 (GRCm39) |
R236W |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,734,452 (GRCm39) |
I1513V |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,951,759 (GRCm39) |
E25G |
possibly damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,065 (GRCm39) |
E318K |
unknown |
Het |
| Itga4 |
T |
C |
2: 79,145,349 (GRCm39) |
S722P |
probably damaging |
Het |
| Kirrel3 |
G |
A |
9: 34,946,224 (GRCm39) |
R617H |
probably damaging |
Het |
| Mboat1 |
A |
T |
13: 30,425,166 (GRCm39) |
H409L |
possibly damaging |
Het |
| Naa15 |
A |
T |
3: 51,351,369 (GRCm39) |
K180* |
probably null |
Het |
| Nccrp1 |
A |
G |
7: 28,246,191 (GRCm39) |
S124P |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,573,338 (GRCm39) |
I92T |
probably damaging |
Het |
| Or13a28 |
G |
A |
7: 140,218,124 (GRCm39) |
C170Y |
probably damaging |
Het |
| Or6d14 |
C |
A |
6: 116,533,807 (GRCm39) |
Y140* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
| Plcb2 |
C |
T |
2: 118,542,407 (GRCm39) |
|
probably null |
Het |
| Pramel19 |
A |
G |
4: 101,798,650 (GRCm39) |
E207G |
probably damaging |
Het |
| Prm2 |
G |
A |
16: 10,609,775 (GRCm39) |
|
probably null |
Het |
| R3hdm1 |
C |
T |
1: 128,114,497 (GRCm39) |
Q184* |
probably null |
Het |
| Rgl1 |
A |
T |
1: 152,424,901 (GRCm39) |
N359K |
probably damaging |
Het |
| Rnf44 |
A |
G |
13: 54,829,966 (GRCm39) |
Y366H |
probably damaging |
Het |
| Rpap2 |
G |
A |
5: 107,773,835 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,631,665 (GRCm39) |
N2120S |
probably damaging |
Het |
| Samd8 |
A |
G |
14: 21,825,027 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
G |
T |
19: 5,702,099 (GRCm39) |
T937K |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,730,157 (GRCm39) |
D707E |
probably damaging |
Het |
| Tas2r109 |
T |
C |
6: 132,957,477 (GRCm39) |
N151S |
probably benign |
Het |
| Try5 |
T |
C |
6: 41,290,358 (GRCm39) |
N42S |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,732,338 (GRCm39) |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation