Incidental Mutation 'R0305:Stat5b'
| ID |
24914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stat5b
|
| Ensembl Gene |
ENSMUSG00000020919 |
| Gene Name |
signal transducer and activator of transcription 5B |
| Synonyms |
|
| MMRRC Submission |
038516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100671557-100741407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100693329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 104
(E104G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004143]
[ENSMUST00000107358]
|
| AlphaFold |
P42232 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004143
AA Change: E104G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000004143
Gene: ENSMUSG00000020919
AA Change: E104G
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
126 |
2.3e-60 |
SMART |
|
Pfam:STAT_alpha
|
138 |
330 |
1e-57 |
PFAM |
|
Pfam:STAT_bind
|
332 |
583 |
1.6e-100 |
PFAM |
|
SH2
|
587 |
676 |
3.23e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107358
AA Change: E104G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102981
Gene: ENSMUSG00000020919
AA Change: E104G
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
126 |
2.3e-60 |
SMART |
|
Pfam:STAT_alpha
|
141 |
330 |
7.1e-56 |
PFAM |
|
Pfam:STAT_bind
|
332 |
582 |
3.3e-105 |
PFAM |
|
SH2
|
587 |
676 |
3.23e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126266
|
| Meta Mutation Damage Score |
0.1734 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this are reduced in size and mammary glands secrete reduced levels of some milk proteins during lactation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
G |
A |
7: 27,274,061 (GRCm39) |
R183Q |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,164,137 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
C |
2: 163,570,077 (GRCm39) |
K312R |
probably benign |
Het |
| Adam21 |
C |
A |
12: 81,607,059 (GRCm39) |
K234N |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,108,776 (GRCm39) |
|
probably null |
Het |
| Aimp1 |
T |
G |
3: 132,379,747 (GRCm39) |
K132Q |
possibly damaging |
Het |
| Aldh16a1 |
C |
T |
7: 44,797,403 (GRCm39) |
R135Q |
probably damaging |
Het |
| Alox12b |
A |
T |
11: 69,058,205 (GRCm39) |
Y519F |
probably benign |
Het |
| Alppl2 |
T |
C |
1: 87,017,324 (GRCm39) |
E25G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,062,210 (GRCm39) |
N3531I |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,391,935 (GRCm39) |
L321P |
probably damaging |
Het |
| Cab39l |
C |
T |
14: 59,757,028 (GRCm39) |
Q137* |
probably null |
Het |
| Cenpo |
A |
T |
12: 4,266,660 (GRCm39) |
H149Q |
possibly damaging |
Het |
| Cpt1a |
A |
G |
19: 3,428,455 (GRCm39) |
T610A |
probably benign |
Het |
| Dcbld2 |
A |
G |
16: 58,269,302 (GRCm39) |
T271A |
probably damaging |
Het |
| Dcps |
A |
G |
9: 35,087,065 (GRCm39) |
|
probably null |
Het |
| Dnai2 |
A |
G |
11: 114,643,720 (GRCm39) |
D462G |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,715,752 (GRCm39) |
|
probably benign |
Het |
| Eomes |
A |
T |
9: 118,313,825 (GRCm39) |
E623D |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,744,747 (GRCm39) |
H594L |
probably benign |
Het |
| Gad1-ps |
T |
G |
10: 99,280,665 (GRCm39) |
|
noncoding transcript |
Het |
| Galk2 |
A |
G |
2: 125,729,808 (GRCm39) |
Y63C |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,260 (GRCm39) |
L227P |
probably damaging |
Het |
| Itgb4 |
T |
G |
11: 115,870,238 (GRCm39) |
C73G |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,212,601 (GRCm39) |
H1472R |
possibly damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,161,171 (GRCm39) |
A246T |
probably benign |
Het |
| Kpna6 |
G |
T |
4: 129,543,042 (GRCm39) |
R458S |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,206,982 (GRCm39) |
T498A |
probably damaging |
Het |
| Lrrd1 |
T |
G |
5: 3,915,707 (GRCm39) |
I768S |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,253 (GRCm39) |
V223A |
probably benign |
Het |
| Nod2 |
G |
A |
8: 89,391,951 (GRCm39) |
A731T |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,569,313 (GRCm39) |
C1403Y |
probably damaging |
Het |
| Nxph1 |
A |
T |
6: 9,247,754 (GRCm39) |
I242F |
probably damaging |
Het |
| Or5p79 |
G |
A |
7: 108,221,792 (GRCm39) |
V258I |
probably benign |
Het |
| Pgr |
A |
G |
9: 8,902,088 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,946,129 (GRCm39) |
S566P |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,866,764 (GRCm39) |
Y242C |
probably damaging |
Het |
| Sftpc |
T |
A |
14: 70,761,518 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
G |
5: 35,881,343 (GRCm39) |
E33D |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,464,819 (GRCm39) |
L344P |
probably benign |
Het |
| Slc39a5 |
T |
A |
10: 128,234,265 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
C |
A |
4: 19,839,401 (GRCm39) |
H335N |
probably benign |
Het |
| Slco1a4 |
A |
C |
6: 141,763,479 (GRCm39) |
N412K |
possibly damaging |
Het |
| Sox1 |
A |
T |
8: 12,446,736 (GRCm39) |
T126S |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,081,663 (GRCm39) |
V353E |
probably damaging |
Het |
| Sult4a1 |
A |
G |
15: 83,970,868 (GRCm39) |
V179A |
probably damaging |
Het |
| Tafa5 |
T |
A |
15: 87,604,709 (GRCm39) |
I83N |
probably damaging |
Het |
| Tbl3 |
G |
A |
17: 24,924,435 (GRCm39) |
R134C |
probably damaging |
Het |
| Tmem256 |
T |
A |
11: 69,729,737 (GRCm39) |
|
probably benign |
Het |
| Tmigd1 |
A |
G |
11: 76,797,960 (GRCm39) |
T101A |
probably damaging |
Het |
| Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,079,459 (GRCm39) |
S1679T |
probably benign |
Het |
| Vmn2r1 |
T |
G |
3: 63,997,087 (GRCm39) |
C248G |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,967 (GRCm39) |
I400V |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,246,713 (GRCm39) |
L685H |
probably damaging |
Het |
| Yeats4 |
A |
G |
10: 117,051,741 (GRCm39) |
F172S |
probably damaging |
Het |
| Zfpm2 |
T |
G |
15: 40,637,431 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stat5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02208:Stat5b
|
APN |
11 |
100,695,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Stat5b
|
APN |
11 |
100,678,200 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02683:Stat5b
|
APN |
11 |
100,695,772 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02725:Stat5b
|
APN |
11 |
100,695,840 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0315:Stat5b
|
UTSW |
11 |
100,679,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0452:Stat5b
|
UTSW |
11 |
100,689,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1267:Stat5b
|
UTSW |
11 |
100,689,419 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1527:Stat5b
|
UTSW |
11 |
100,699,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2059:Stat5b
|
UTSW |
11 |
100,678,158 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2316:Stat5b
|
UTSW |
11 |
100,687,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2990:Stat5b
|
UTSW |
11 |
100,699,188 (GRCm39) |
splice site |
probably null |
|
|
R4380:Stat5b
|
UTSW |
11 |
100,678,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Stat5b
|
UTSW |
11 |
100,678,110 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4584:Stat5b
|
UTSW |
11 |
100,678,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Stat5b
|
UTSW |
11 |
100,681,623 (GRCm39) |
missense |
probably benign |
|
|
R4931:Stat5b
|
UTSW |
11 |
100,675,080 (GRCm39) |
nonsense |
probably null |
|
|
R5008:Stat5b
|
UTSW |
11 |
100,693,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5015:Stat5b
|
UTSW |
11 |
100,695,831 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5072:Stat5b
|
UTSW |
11 |
100,699,361 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5601:Stat5b
|
UTSW |
11 |
100,674,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5638:Stat5b
|
UTSW |
11 |
100,675,080 (GRCm39) |
nonsense |
probably null |
|
|
R5901:Stat5b
|
UTSW |
11 |
100,695,733 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6577:Stat5b
|
UTSW |
11 |
100,688,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Stat5b
|
UTSW |
11 |
100,674,601 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8147:Stat5b
|
UTSW |
11 |
100,688,607 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8188:Stat5b
|
UTSW |
11 |
100,692,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Stat5b
|
UTSW |
11 |
100,681,634 (GRCm39) |
missense |
probably benign |
|
|
R9114:Stat5b
|
UTSW |
11 |
100,692,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9449:Stat5b
|
UTSW |
11 |
100,681,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9489:Stat5b
|
UTSW |
11 |
100,699,276 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9492:Stat5b
|
UTSW |
11 |
100,692,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9605:Stat5b
|
UTSW |
11 |
100,699,276 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTATGATCCACTCCTTCAGCAGC -3'
(R):5'- AGCAGCCTTACCTTCTTAGTGCAAC -3'
Sequencing Primer
(F):5'- GTTATAAAGCTAAGGTCAGCTCCC -3'
(R):5'- GTGCAACTGCATTTTCATAATGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation