Incidental Mutation 'R0520:Stat5a'
| ID |
48467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stat5a
|
| Ensembl Gene |
ENSMUSG00000004043 |
| Gene Name |
signal transducer and activator of transcription 5A |
| Synonyms |
STAT5 |
| MMRRC Submission |
038713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0520 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100750177-100775995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100752252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 30
(V30A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004145]
[ENSMUST00000107356]
[ENSMUST00000107357]
[ENSMUST00000133036]
[ENSMUST00000138083]
|
| AlphaFold |
P42230 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004145
AA Change: V30A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043
AA Change: V30A
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
126 |
4.42e-62 |
SMART |
|
Pfam:STAT_alpha
|
138 |
330 |
6.9e-58 |
PFAM |
|
Pfam:STAT_bind
|
332 |
583 |
2.4e-101 |
PFAM |
|
SH2
|
587 |
688 |
7.64e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107356
AA Change: V30A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043
AA Change: V30A
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
126 |
4.42e-62 |
SMART |
|
Pfam:STAT_alpha
|
138 |
330 |
6.9e-58 |
PFAM |
|
Pfam:STAT_bind
|
332 |
583 |
2.4e-101 |
PFAM |
|
SH2
|
587 |
688 |
7.64e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107357
AA Change: V30A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: V30A
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
126 |
4.42e-62 |
SMART |
|
Pfam:STAT_alpha
|
141 |
330 |
4.5e-57 |
PFAM |
|
Pfam:STAT_bind
|
332 |
582 |
1e-104 |
PFAM |
|
SH2
|
587 |
688 |
1.55e-6 |
SMART |
|
low complexity region
|
713 |
729 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133036
AA Change: V30A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117204
Gene: ENSMUSG00000004043
AA Change: V30A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STAT_int
|
2 |
51 |
5.8e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138083
AA Change: V30A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120039
Gene: ENSMUSG00000004043
AA Change: V30A
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
125 |
2.23e-58 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154087
|
| Meta Mutation Damage Score |
0.3892 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (72/72) |
| 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 is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene are reduced in size and display abnormalities in both mammary gland structure and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
C |
14: 103,288,952 (GRCm39) |
I154T |
possibly damaging |
Het |
| Acr |
G |
T |
15: 89,457,430 (GRCm39) |
C226F |
probably damaging |
Het |
| Aff1 |
C |
T |
5: 103,995,617 (GRCm39) |
R1070* |
probably null |
Het |
| Aldh9a1 |
C |
T |
1: 167,188,960 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,915,851 (GRCm39) |
H12Q |
probably damaging |
Het |
| Asic1 |
A |
T |
15: 99,593,416 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,558 (GRCm39) |
M1815K |
possibly damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,043 (GRCm39) |
D1351V |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,178 (GRCm39) |
W299* |
probably null |
Het |
| B3gntl1 |
C |
A |
11: 121,514,314 (GRCm39) |
V313F |
possibly damaging |
Het |
| B4galnt4 |
T |
A |
7: 140,647,286 (GRCm39) |
C345* |
probably null |
Het |
| Bicc1 |
A |
T |
10: 70,793,020 (GRCm39) |
F211L |
probably damaging |
Het |
| Cachd1 |
T |
G |
4: 100,754,900 (GRCm39) |
V117G |
probably damaging |
Het |
| Cdc16 |
G |
A |
8: 13,810,569 (GRCm39) |
|
probably null |
Het |
| Cers6 |
C |
T |
2: 68,935,435 (GRCm39) |
Q312* |
probably null |
Het |
| Csta2 |
A |
G |
16: 36,073,461 (GRCm39) |
I16V |
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,437,512 (GRCm39) |
H115R |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,594,692 (GRCm39) |
T18A |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,565,604 (GRCm39) |
V816A |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 70,823,989 (GRCm39) |
Q325* |
probably null |
Het |
| Dnaja1 |
A |
T |
4: 40,728,072 (GRCm39) |
M178L |
probably benign |
Het |
| Ecd |
A |
T |
14: 20,378,732 (GRCm39) |
S454T |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,834,247 (GRCm39) |
H454Y |
probably benign |
Het |
| Exo1 |
T |
A |
1: 175,727,031 (GRCm39) |
D447E |
probably benign |
Het |
| F5 |
T |
G |
1: 164,037,156 (GRCm39) |
I1965S |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,146,821 (GRCm39) |
C2692R |
probably damaging |
Het |
| Fggy |
T |
A |
4: 95,489,340 (GRCm39) |
L152Q |
probably damaging |
Het |
| Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
| Gm9871 |
A |
G |
6: 101,778,540 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai2 |
A |
T |
9: 107,497,372 (GRCm39) |
D7E |
probably benign |
Het |
| Gon7 |
C |
T |
12: 102,724,047 (GRCm39) |
|
probably benign |
Het |
| H2-K2 |
A |
T |
17: 34,216,390 (GRCm39) |
V272E |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,770 (GRCm39) |
R2555L |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,317,618 (GRCm39) |
R360G |
probably benign |
Het |
| Igsf9b |
C |
A |
9: 27,234,546 (GRCm39) |
S470R |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,633,642 (GRCm39) |
|
probably benign |
Het |
| Inpp5k |
C |
A |
11: 75,530,356 (GRCm39) |
Y265* |
probably null |
Het |
| Klhl33 |
T |
G |
14: 51,129,140 (GRCm39) |
E436D |
probably damaging |
Het |
| Krt80 |
A |
G |
15: 101,267,898 (GRCm39) |
L13P |
probably benign |
Het |
| Krtap19-2 |
C |
T |
16: 88,670,749 (GRCm39) |
|
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,280,708 (GRCm39) |
T526A |
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,146,336 (GRCm39) |
|
probably null |
Het |
| Msh2 |
G |
T |
17: 88,024,972 (GRCm39) |
V617F |
possibly damaging |
Het |
| Nckap1 |
A |
C |
2: 80,371,874 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
T |
A |
14: 30,681,263 (GRCm39) |
|
probably benign |
Het |
| Or7h8 |
G |
A |
9: 20,123,791 (GRCm39) |
V49I |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,849 (GRCm39) |
V298A |
probably benign |
Het |
| Or8k22 |
G |
T |
2: 86,163,475 (GRCm39) |
T75K |
probably damaging |
Het |
| Or9s14 |
T |
A |
1: 92,536,471 (GRCm39) |
V304E |
probably damaging |
Het |
| Osgin1 |
A |
G |
8: 120,169,247 (GRCm39) |
H48R |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,811,920 (GRCm39) |
T369S |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,844 (GRCm39) |
Q821* |
probably null |
Het |
| Plekhm1 |
T |
C |
11: 103,285,770 (GRCm39) |
I222V |
probably benign |
Het |
| Ptprg |
T |
G |
14: 12,199,783 (GRCm38) |
N65K |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,771,710 (GRCm39) |
V351E |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,014,546 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,736,538 (GRCm39) |
D587E |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,238,823 (GRCm39) |
M164V |
probably benign |
Het |
| Stk36 |
T |
G |
1: 74,641,365 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,614,839 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,265,799 (GRCm39) |
M553T |
probably damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,636 (GRCm39) |
Y89N |
possibly damaging |
Het |
| Tpp2 |
A |
G |
1: 44,029,690 (GRCm39) |
Y991C |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,666,579 (GRCm39) |
K615E |
possibly damaging |
Het |
| Ubac2 |
C |
T |
14: 122,231,754 (GRCm39) |
P227S |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,932,588 (GRCm39) |
K565T |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,853,133 (GRCm39) |
F2409L |
possibly damaging |
Het |
| Wdr64 |
A |
G |
1: 175,553,958 (GRCm39) |
T173A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,285,419 (GRCm39) |
I60T |
probably benign |
Het |
| Zfp81 |
A |
G |
17: 33,553,351 (GRCm39) |
S488P |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stat5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:Stat5a
|
APN |
11 |
100,771,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02021:Stat5a
|
APN |
11 |
100,774,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02032:Stat5a
|
APN |
11 |
100,752,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03108:Stat5a
|
APN |
11 |
100,753,965 (GRCm39) |
nonsense |
probably null |
|
|
IGL03160:Stat5a
|
APN |
11 |
100,752,671 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Blinken
|
UTSW |
11 |
100,771,308 (GRCm39) |
missense |
|
|
|
hohum
|
UTSW |
11 |
100,764,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nod
|
UTSW |
11 |
100,767,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nodoze
|
UTSW |
11 |
100,771,353 (GRCm39) |
missense |
probably benign |
0.05 |
|
Yawn
|
UTSW |
11 |
100,770,519 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0098:Stat5a
|
UTSW |
11 |
100,766,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0362:Stat5a
|
UTSW |
11 |
100,772,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0452:Stat5a
|
UTSW |
11 |
100,753,961 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0815:Stat5a
|
UTSW |
11 |
100,765,908 (GRCm39) |
splice site |
probably null |
|
|
R1081:Stat5a
|
UTSW |
11 |
100,771,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Stat5a
|
UTSW |
11 |
100,774,884 (GRCm39) |
makesense |
probably null |
|
|
R1774:Stat5a
|
UTSW |
11 |
100,770,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Stat5a
|
UTSW |
11 |
100,764,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Stat5a
|
UTSW |
11 |
100,764,916 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2900:Stat5a
|
UTSW |
11 |
100,764,957 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4023:Stat5a
|
UTSW |
11 |
100,765,752 (GRCm39) |
nonsense |
probably null |
|
|
R4791:Stat5a
|
UTSW |
11 |
100,756,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Stat5a
|
UTSW |
11 |
100,771,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Stat5a
|
UTSW |
11 |
100,767,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5723:Stat5a
|
UTSW |
11 |
100,772,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5896:Stat5a
|
UTSW |
11 |
100,767,883 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6026:Stat5a
|
UTSW |
11 |
100,771,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Stat5a
|
UTSW |
11 |
100,770,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Stat5a
|
UTSW |
11 |
100,770,519 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7568:Stat5a
|
UTSW |
11 |
100,765,850 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7771:Stat5a
|
UTSW |
11 |
100,754,045 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7801:Stat5a
|
UTSW |
11 |
100,771,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Stat5a
|
UTSW |
11 |
100,765,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Stat5a
|
UTSW |
11 |
100,774,728 (GRCm39) |
missense |
unknown |
|
|
R8176:Stat5a
|
UTSW |
11 |
100,767,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Stat5a
|
UTSW |
11 |
100,770,129 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8680:Stat5a
|
UTSW |
11 |
100,774,714 (GRCm39) |
missense |
unknown |
|
|
R8923:Stat5a
|
UTSW |
11 |
100,771,308 (GRCm39) |
missense |
|
|
|
R8970:Stat5a
|
UTSW |
11 |
100,771,353 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8988:Stat5a
|
UTSW |
11 |
100,774,764 (GRCm39) |
missense |
unknown |
|
|
R9401:Stat5a
|
UTSW |
11 |
100,756,254 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9433:Stat5a
|
UTSW |
11 |
100,765,870 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9526:Stat5a
|
UTSW |
11 |
100,771,161 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGGCAGGCTAGAGACTTCTGTG -3'
(R):5'- AGCATCAAGAGTGATTCAGGGCATC -3'
Sequencing Primer
(F):5'- GTGGAACAAATGACTTATCTTCTCCC -3'
(R):5'- AGATGAGTCTCCCCTCTGATAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation