Incidental Mutation 'R1430:Utp14b'
| ID |
161463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Utp14b
|
| Ensembl Gene |
ENSMUSG00000079470 |
| Gene Name |
UTP14B small subunit processome component |
| Synonyms |
4932411L21Rik, jsd |
| MMRRC Submission |
039486-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78644111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 670
(K670E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035779]
[ENSMUST00000053760]
[ENSMUST00000134566]
[ENSMUST00000135642]
[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: K670E
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052149
Gene: ENSMUSG00000079470
AA Change: K670E
| 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: ENSMUST00000135642
|
| SMART Domains |
Protein: ENSMUSP00000116576
Gene: ENSMUSG00000032883
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| 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: K670E
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121391
Gene: ENSMUSG00000079470
AA Change: K670E
| 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 |
0.0705 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Aoc2 |
A |
G |
11: 101,217,321 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,306,056 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,030,436 (GRCm39) |
|
probably benign |
Het |
| Cyp2j9 |
G |
T |
4: 96,472,201 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
G |
13: 60,901,957 (GRCm39) |
F929V |
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,359,493 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,346,003 (GRCm39) |
E2448K |
probably benign |
Het |
| Doc2b |
A |
T |
11: 75,670,981 (GRCm39) |
C217S |
possibly damaging |
Het |
| Dock11 |
A |
G |
X: 35,333,565 (GRCm39) |
I2010V |
probably benign |
Het |
| Dram1 |
T |
C |
10: 88,160,641 (GRCm39) |
T227A |
possibly damaging |
Het |
| Eppin |
G |
A |
2: 164,431,323 (GRCm39) |
T101M |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,105 (GRCm39) |
D533G |
probably damaging |
Het |
| Fmo1 |
C |
A |
1: 162,667,293 (GRCm39) |
R174L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,828,407 (GRCm39) |
L6735I |
possibly damaging |
Het |
| Gab1 |
G |
T |
8: 81,515,241 (GRCm39) |
T359K |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,298,029 (GRCm39) |
D118G |
possibly damaging |
Het |
| Gramd1a |
A |
G |
7: 30,832,211 (GRCm39) |
S609P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrrc24 |
G |
T |
15: 76,607,992 (GRCm39) |
|
probably null |
Het |
| Mak |
C |
A |
13: 41,223,760 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,063,768 (GRCm39) |
R2708Q |
possibly damaging |
Het |
| Mettl24 |
T |
C |
10: 40,613,791 (GRCm39) |
C177R |
probably damaging |
Het |
| Mgam |
G |
C |
6: 40,733,305 (GRCm39) |
E812D |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,111,445 (GRCm39) |
R170G |
possibly damaging |
Het |
| Msn |
G |
A |
X: 95,196,325 (GRCm39) |
V130I |
probably benign |
Het |
| Ncoa4 |
G |
A |
14: 31,898,679 (GRCm39) |
V500I |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,424,752 (GRCm39) |
L222P |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,928 (GRCm39) |
|
probably null |
Het |
| Or5an6 |
C |
T |
19: 12,371,801 (GRCm39) |
T58I |
probably benign |
Het |
| Or8k3b |
T |
C |
2: 86,520,866 (GRCm39) |
Y151C |
possibly damaging |
Het |
| Ppm1h |
T |
C |
10: 122,693,004 (GRCm39) |
S302P |
probably damaging |
Het |
| Prkce |
T |
A |
17: 86,866,565 (GRCm39) |
|
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,815 (GRCm39) |
I34V |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,011,826 (GRCm39) |
T710A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc1a5 |
A |
G |
7: 16,516,328 (GRCm39) |
D168G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,359,351 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
G |
T |
16: 57,034,573 (GRCm39) |
D75E |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,395,839 (GRCm39) |
V418A |
probably benign |
Het |
| Tmem132e |
T |
C |
11: 82,329,122 (GRCm39) |
V467A |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,651 (GRCm39) |
D144G |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,817,997 (GRCm39) |
|
probably null |
Het |
| Ubxn4 |
T |
A |
1: 128,202,617 (GRCm39) |
F420I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,409,151 (GRCm39) |
T2645A |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,227,580 (GRCm39) |
V2010M |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,784 (GRCm39) |
F91L |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,329,591 (GRCm39) |
S532P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGGAGATGAAGCCACTCACC -3'
(R):5'- AGACCTTGTGGAAGAGCAGTACCC -3'
Sequencing Primer
(F):5'- TGGCTGTGCCCACAATAC -3'
(R):5'- TGCCAACCTTGGGAACTGTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation