Incidental Mutation 'R1180:Utp14b'
ID |
101442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Utp14b
|
Ensembl Gene |
ENSMUSG00000079470 |
Gene Name |
UTP14B small subunit processome component |
Synonyms |
4932411L21Rik, jsd |
MMRRC Submission |
039252-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1180 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
78635600-78645305 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 78643162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 353
(N353K)
|
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: N353K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052149 Gene: ENSMUSG00000079470 AA Change: N353K
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: N353K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121391 Gene: ENSMUSG00000079470 AA Change: N353K
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 |
0.1564 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 87.5%
|
Validation Efficiency |
98% (55/56) |
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 |
2610021A01Rik |
T |
A |
7: 41,275,141 (GRCm39) |
D281E |
probably benign |
Het |
Adam24 |
T |
G |
8: 41,134,467 (GRCm39) |
V645G |
probably damaging |
Het |
Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,457,836 (GRCm38) |
|
probably benign |
Het |
Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
Chd8 |
A |
C |
14: 52,458,565 (GRCm39) |
S848A |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,709,577 (GRCm39) |
K1873R |
unknown |
Het |
Cpd |
T |
C |
11: 76,692,579 (GRCm39) |
T753A |
possibly damaging |
Het |
Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,690,413 (GRCm39) |
E173G |
possibly damaging |
Het |
EU599041 |
G |
A |
7: 42,875,731 (GRCm39) |
|
noncoding transcript |
Het |
Fer1l6 |
G |
A |
15: 58,474,160 (GRCm39) |
|
probably benign |
Het |
Flt3 |
T |
C |
5: 147,278,048 (GRCm39) |
D842G |
probably damaging |
Het |
Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,805,570 (GRCm39) |
Y630H |
probably damaging |
Het |
Gprin3 |
C |
A |
6: 59,331,921 (GRCm39) |
V129F |
possibly damaging |
Het |
Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
Htra4 |
G |
T |
8: 25,523,735 (GRCm39) |
L277I |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,259,899 (GRCm39) |
Y266C |
probably damaging |
Het |
Kif6 |
T |
A |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
Kiz |
C |
T |
2: 146,811,927 (GRCm39) |
R679C |
unknown |
Het |
Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
Mipep |
G |
A |
14: 61,071,505 (GRCm39) |
V537I |
probably damaging |
Het |
Mrpl44 |
T |
A |
1: 79,755,677 (GRCm39) |
N94K |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,103,167 (GRCm39) |
T168S |
possibly damaging |
Het |
Mx2 |
G |
A |
16: 97,357,209 (GRCm39) |
R434H |
probably damaging |
Het |
Myh6 |
A |
G |
14: 55,181,925 (GRCm39) |
I1792T |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,446,908 (GRCm39) |
S450P |
probably damaging |
Het |
Nherf4 |
T |
A |
9: 44,160,543 (GRCm39) |
D284V |
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
Psmd8 |
A |
T |
7: 28,874,825 (GRCm39) |
V248E |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,301,285 (GRCm39) |
Y646C |
probably damaging |
Het |
Samsn1 |
C |
T |
16: 75,670,536 (GRCm39) |
G189E |
probably damaging |
Het |
Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
Sfmbt2 |
C |
T |
2: 10,406,877 (GRCm39) |
H59Y |
probably damaging |
Het |
Shb |
T |
C |
4: 45,423,996 (GRCm39) |
I486V |
possibly damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tk1 |
A |
G |
11: 117,712,921 (GRCm39) |
|
probably null |
Het |
Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Ube2q2 |
T |
C |
9: 55,102,700 (GRCm39) |
|
probably benign |
Het |
Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAAGACTGCCCAAATGCTGC -3'
(R):5'- TCCCTCACTCTCAGAAGACACATGG -3'
Sequencing Primer
(F):5'- TGCTGCATTGCAAGAACTG -3'
(R):5'- CTCAGGCATCTGTTCAGGATCG -3'
|
Posted On |
2014-01-15 |