Incidental Mutation 'R4204:Utp14b'
| ID |
318812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp14b
|
| Ensembl Gene |
ENSMUSG00000079470 |
| Gene Name |
UTP14B small subunit processome component |
| Synonyms |
4932411L21Rik, jsd |
| MMRRC Submission |
041033-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4204 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78642539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 146
(E146K)
|
| 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 benign
Transcript: ENSMUST00000053760
AA Change: E146K
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: E146K
| 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 benign
Transcript: ENSMUST00000151622
AA Change: E146K
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: E146K
| 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 |
0.1325 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (46/47) |
| 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 |
|---|
| Abca1 |
T |
C |
4: 53,090,369 (GRCm39) |
K360R |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| B130006D01Rik |
A |
G |
11: 95,617,250 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
A |
T |
3: 95,797,057 (GRCm39) |
Y37* |
probably null |
Het |
| Ccdc171 |
A |
T |
4: 83,599,392 (GRCm39) |
M736L |
probably benign |
Het |
| Ccdc88a |
A |
G |
11: 29,413,399 (GRCm39) |
K646E |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,410,335 (GRCm39) |
T192A |
probably benign |
Het |
| Hgs |
C |
A |
11: 120,368,013 (GRCm39) |
P241T |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,109,505 (GRCm39) |
Y235H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,923 (GRCm39) |
Y32H |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,046 (GRCm39) |
S335A |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,860,642 (GRCm39) |
|
probably benign |
Het |
| Mfrp |
G |
A |
9: 44,016,525 (GRCm39) |
G407S |
possibly damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,820,670 (GRCm39) |
G160R |
probably damaging |
Het |
| Mrtfb |
A |
T |
16: 13,221,119 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,745,256 (GRCm39) |
Y35C |
probably damaging |
Het |
| Nhej1 |
A |
T |
1: 75,085,782 (GRCm39) |
I6N |
probably damaging |
Het |
| Npy5r |
G |
T |
8: 67,134,693 (GRCm39) |
Y33* |
probably null |
Het |
| Or4c120 |
A |
G |
2: 89,001,124 (GRCm39) |
V144A |
probably benign |
Het |
| Pcdha8 |
G |
C |
18: 37,127,737 (GRCm39) |
V740L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,359,053 (GRCm39) |
C90F |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,871,115 (GRCm39) |
H62L |
probably benign |
Het |
| Prodh |
A |
G |
16: 17,890,182 (GRCm39) |
V553A |
probably damaging |
Het |
| Rasgef1c |
G |
A |
11: 49,849,535 (GRCm39) |
V137M |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,231,042 (GRCm39) |
R1363* |
probably null |
Het |
| Rgl2 |
G |
T |
17: 34,155,906 (GRCm39) |
V694L |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,048 (GRCm39) |
N294D |
probably benign |
Het |
| Rpe65 |
G |
A |
3: 159,310,047 (GRCm39) |
A107T |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,410,892 (GRCm39) |
R56G |
possibly damaging |
Het |
| Serp2 |
A |
G |
14: 76,793,902 (GRCm39) |
I18T |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,868,415 (GRCm39) |
I92V |
probably benign |
Het |
| Tcaim |
A |
G |
9: 122,662,683 (GRCm39) |
K417R |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,829 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,964,928 (GRCm39) |
D1474E |
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,944,593 (GRCm39) |
E43G |
probably damaging |
Het |
| Zfp800 |
C |
T |
6: 28,243,180 (GRCm39) |
S595N |
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 |
|
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 |
|
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'- GGAAGCAGTCAGTTCCCTTG -3'
(R):5'- GGGGTTCTTACTTTCCAGTCAG -3'
Sequencing Primer
(F):5'- CAGTCAGTTCCCTTGGTAGAAAG -3'
(R):5'- CAGTAAAAACATGTTCAATGGGTGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation