Incidental Mutation 'IGL01352:Stat5a'
| ID |
75382 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stat5a
|
| Ensembl Gene |
ENSMUSG00000004043 |
| Gene Name |
signal transducer and activator of transcription 5A |
| Synonyms |
STAT5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100750177-100775995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100771898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 650
(D650G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004145]
[ENSMUST00000103114]
[ENSMUST00000107356]
[ENSMUST00000107357]
|
| AlphaFold |
P42230 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004145
AA Change: D650G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043
AA Change: D650G
| 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 |
probably benign
Transcript: ENSMUST00000103114
|
| SMART Domains |
Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
3.03e-60 |
SMART |
|
Pfam:STAT_alpha
|
138 |
319 |
7.2e-62 |
PFAM |
|
Pfam:STAT_bind
|
321 |
574 |
5.7e-130 |
PFAM |
|
SH2
|
582 |
663 |
2.84e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107356
AA Change: D650G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043
AA Change: D650G
| 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 |
probably damaging
Transcript: ENSMUST00000107357
AA Change: D650G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: D650G
| 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 |
noncoding transcript
Transcript: ENSMUST00000135272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154087
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,837,155 (GRCm39) |
I1169V |
probably benign |
Het |
| B3gnt5 |
T |
C |
16: 19,587,963 (GRCm39) |
S61P |
probably damaging |
Het |
| Bambi |
G |
A |
18: 3,512,071 (GRCm39) |
A152T |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 118,633,518 (GRCm39) |
Q930* |
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,152,031 (GRCm39) |
|
probably benign |
Het |
| Chit1 |
C |
T |
1: 134,076,228 (GRCm39) |
T295M |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,600,896 (GRCm39) |
N746K |
probably benign |
Het |
| Cyfip2 |
A |
T |
11: 46,156,823 (GRCm39) |
F422I |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,656,753 (GRCm39) |
M208V |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
A |
G |
19: 46,253,654 (GRCm39) |
H574R |
probably damaging |
Het |
| Gm17654 |
T |
G |
14: 43,813,331 (GRCm39) |
E186D |
probably damaging |
Het |
| Gm8165 |
T |
C |
14: 43,913,573 (GRCm39) |
N97S |
unknown |
Het |
| Ilf3 |
C |
T |
9: 21,303,618 (GRCm39) |
L160F |
possibly damaging |
Het |
| Krt84 |
T |
A |
15: 101,437,209 (GRCm39) |
Q318L |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,333,870 (GRCm39) |
H1457L |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,390,181 (GRCm39) |
D1748V |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,741,904 (GRCm39) |
E676G |
probably damaging |
Het |
| Myo10 |
C |
A |
15: 25,701,783 (GRCm39) |
R53S |
probably damaging |
Het |
| Myorg |
T |
A |
4: 41,499,469 (GRCm39) |
R54* |
probably null |
Het |
| Nrap |
A |
G |
19: 56,368,268 (GRCm39) |
S205P |
probably benign |
Het |
| Or4c52 |
A |
G |
2: 89,846,063 (GRCm39) |
D263G |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,437,285 (GRCm39) |
Y66* |
probably null |
Het |
| Or8b1b |
A |
G |
9: 38,376,030 (GRCm39) |
N231S |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,619,939 (GRCm39) |
M894L |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,634,641 (GRCm39) |
|
probably null |
Het |
| Pycard |
T |
C |
7: 127,592,674 (GRCm39) |
D9G |
probably damaging |
Het |
| Rbfox3 |
G |
A |
11: 118,396,439 (GRCm39) |
|
probably benign |
Het |
| Rnf122 |
C |
T |
8: 31,614,908 (GRCm39) |
R71* |
probably null |
Het |
| Scel |
T |
A |
14: 103,770,774 (GRCm39) |
D69E |
possibly damaging |
Het |
| Spag6 |
T |
G |
2: 18,715,284 (GRCm39) |
M21R |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,308,658 (GRCm39) |
I276T |
possibly damaging |
Het |
| Tnfaip2 |
G |
T |
12: 111,412,053 (GRCm39) |
E151D |
probably damaging |
Het |
| Trio |
G |
A |
15: 27,901,315 (GRCm39) |
T313I |
probably benign |
Het |
| Ubqln4 |
A |
C |
3: 88,471,775 (GRCm39) |
M404L |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,934,807 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
T |
5: 102,091,986 (GRCm39) |
V451D |
probably damaging |
Het |
| Zfp341 |
G |
T |
2: 154,470,816 (GRCm39) |
A278S |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,547,093 (GRCm39) |
A28T |
possibly damaging |
Het |
|
| Other mutations in Stat5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0520:Stat5a
|
UTSW |
11 |
100,752,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
|
| Posted On |
2013-10-07 |
Incidental Mutation