Incidental Mutation 'R7504:Pbx3'
| ID |
581654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbx3
|
| Ensembl Gene |
ENSMUSG00000038718 |
| Gene Name |
pre B cell leukemia homeobox 3 |
| Synonyms |
|
| MMRRC Submission |
045577-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34171457-34373142 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34175924 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 385
(T385A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040638]
[ENSMUST00000113132]
[ENSMUST00000143776]
[ENSMUST00000153278]
|
| AlphaFold |
O35317 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040638
AA Change: T385A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045281
Gene: ENSMUSG00000038718
AA Change: T385A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
43 |
234 |
2.7e-97 |
PFAM |
|
HOX
|
235 |
300 |
1.74e-17 |
SMART |
|
low complexity region
|
308 |
341 |
N/A |
INTRINSIC |
|
Blast:HOX
|
342 |
385 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113132
AA Change: D347G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108757
Gene: ENSMUSG00000038718
AA Change: D347G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
234 |
8.5e-103 |
PFAM |
|
HOX
|
235 |
300 |
8.8e-20 |
SMART |
|
low complexity region
|
308 |
336 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143776
|
| SMART Domains |
Protein: ENSMUSP00000119914
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153278
|
| SMART Domains |
Protein: ENSMUSP00000123567
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
38 |
93 |
4.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175855
|
| SMART Domains |
Protein: ENSMUSP00000135838
Gene: ENSMUSG00000038718
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
53 |
1.6e-27 |
PFAM |
|
HOX
|
54 |
119 |
8.8e-20 |
SMART |
|
low complexity region
|
127 |
155 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1034 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display neonatal lethality with hypoventilation and respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
G |
17: 14,943,653 (GRCm38) |
A14G |
probably damaging |
Het |
| 6430573F11Rik |
A |
C |
8: 36,512,155 (GRCm38) |
N304T |
probably benign |
Het |
| Btn1a1 |
A |
T |
13: 23,461,716 (GRCm38) |
M161K |
probably benign |
Het |
| Camkk2 |
G |
A |
5: 122,746,308 (GRCm38) |
T350I |
probably damaging |
Het |
| Cdc42bpg |
C |
A |
19: 6,306,784 (GRCm38) |
D23E |
possibly damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,098,514 (GRCm38) |
L36P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,088,035 (GRCm38) |
I351T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,201,017 (GRCm38) |
Y1816H |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,683,049 (GRCm38) |
N300K |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,101,617 (GRCm38) |
Y294H |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,545,038 (GRCm38) |
I198N |
probably damaging |
Het |
| Gm6502 |
G |
T |
5: 94,317,047 (GRCm38) |
V431L |
probably benign |
Het |
| Grid1 |
G |
T |
14: 35,562,513 (GRCm38) |
A738S |
probably damaging |
Het |
| Gsx2 |
G |
A |
5: 75,076,399 (GRCm38) |
|
probably null |
Het |
| Hc |
G |
A |
2: 35,061,319 (GRCm38) |
T22I |
not run |
Het |
| Hps1 |
T |
C |
19: 42,766,720 (GRCm38) |
D261G |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,918,005 (GRCm38) |
Y539C |
probably damaging |
Het |
| Insc |
G |
T |
7: 114,791,298 (GRCm38) |
|
probably null |
Het |
| Isg15 |
T |
C |
4: 156,200,045 (GRCm38) |
M9V |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,256,233 (GRCm38) |
L695P |
unknown |
Het |
| Nars |
A |
C |
18: 64,512,022 (GRCm38) |
F52V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 103,056,459 (GRCm38) |
F225V |
probably damaging |
Het |
| Olfr1352 |
A |
G |
10: 78,984,660 (GRCm38) |
Y290C |
possibly damaging |
Het |
| Olfr143 |
A |
T |
9: 38,254,243 (GRCm38) |
K272N |
possibly damaging |
Het |
| Olfr1495 |
T |
A |
19: 13,768,732 (GRCm38) |
I130N |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,421,799 (GRCm38) |
T61S |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,152,953 (GRCm38) |
E606G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,075,759 (GRCm38) |
Y589H |
probably benign |
Het |
| Scara3 |
A |
G |
14: 65,931,331 (GRCm38) |
I279T |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,867,967 (GRCm38) |
Y477F |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,758,171 (GRCm38) |
K415E |
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,888,328 (GRCm38) |
T639I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 75,136,383 (GRCm38) |
F430I |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,139,743 (GRCm38) |
C743Y |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,487,339 (GRCm38) |
V445L |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,554,632 (GRCm38) |
S652P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 64,992,617 (GRCm38) |
D1155G |
possibly damaging |
Het |
| Traip |
T |
C |
9: 107,961,544 (GRCm38) |
I169T |
probably benign |
Het |
| Usp45 |
T |
G |
4: 21,816,892 (GRCm38) |
M374R |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,268,332 (GRCm38) |
H263L |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,581,846 (GRCm38) |
V364A |
probably damaging |
Het |
| Zfp128 |
G |
A |
7: 12,890,478 (GRCm38) |
D258N |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,909,418 (GRCm38) |
T76I |
probably benign |
Het |
| Zfp688 |
C |
A |
7: 127,419,311 (GRCm38) |
C214F |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,722,674 (GRCm38) |
S277P |
probably damaging |
Het |
|
| Other mutations in Pbx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02468:Pbx3
|
APN |
2 |
34,224,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02524:Pbx3
|
APN |
2 |
34,370,818 (GRCm38) |
splice site |
probably benign |
|
|
PIT4812001:Pbx3
|
UTSW |
2 |
34,224,619 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0302:Pbx3
|
UTSW |
2 |
34,224,560 (GRCm38) |
missense |
probably benign |
0.42 |
|
R1526:Pbx3
|
UTSW |
2 |
34,371,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1529:Pbx3
|
UTSW |
2 |
34,204,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1627:Pbx3
|
UTSW |
2 |
34,175,953 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1652:Pbx3
|
UTSW |
2 |
34,224,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1791:Pbx3
|
UTSW |
2 |
34,224,452 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1850:Pbx3
|
UTSW |
2 |
34,176,820 (GRCm38) |
missense |
probably benign |
0.34 |
|
R2908:Pbx3
|
UTSW |
2 |
34,172,921 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4073:Pbx3
|
UTSW |
2 |
34,224,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5212:Pbx3
|
UTSW |
2 |
34,288,781 (GRCm38) |
intron |
probably benign |
|
|
R5897:Pbx3
|
UTSW |
2 |
34,371,908 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7376:Pbx3
|
UTSW |
2 |
34,204,877 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7812:Pbx3
|
UTSW |
2 |
34,224,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8079:Pbx3
|
UTSW |
2 |
34,178,228 (GRCm38) |
missense |
probably benign |
0.36 |
|
R9104:Pbx3
|
UTSW |
2 |
34,224,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9114:Pbx3
|
UTSW |
2 |
34,213,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9225:Pbx3
|
UTSW |
2 |
34,370,926 (GRCm38) |
unclassified |
probably benign |
|
|
R9336:Pbx3
|
UTSW |
2 |
34,371,820 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9420:Pbx3
|
UTSW |
2 |
34,213,336 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9445:Pbx3
|
UTSW |
2 |
34,224,543 (GRCm38) |
critical splice donor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGCTCGCCATAAAATG -3'
(R):5'- CAAGGAATCTTTGAAATCCCTCC -3'
Sequencing Primer
(F):5'- TGCTCGCCATAAAATGAAACCATAG -3'
(R):5'- GAAATCCCTCCAGTCAGATCTGATTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation