Incidental Mutation 'R6001:Stat4'
| ID |
480816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stat4
|
| Ensembl Gene |
ENSMUSG00000062939 |
| Gene Name |
signal transducer and activator of transcription 4 |
| Synonyms |
|
| MMRRC Submission |
044180-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R6001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52026307-52146348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52136026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 445
(E445V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027277]
[ENSMUST00000168302]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027277
AA Change: E445V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: E445V
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
3.73e-60 |
SMART |
|
Pfam:STAT_alpha
|
140 |
314 |
2.2e-54 |
PFAM |
|
Pfam:STAT_bind
|
316 |
562 |
4.7e-76 |
PFAM |
|
SH2
|
571 |
681 |
9.07e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168302
AA Change: E445V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: E445V
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
3.73e-60 |
SMART |
|
Pfam:STAT_alpha
|
137 |
314 |
8.2e-66 |
PFAM |
|
Pfam:STAT_bind
|
316 |
563 |
3.3e-114 |
PFAM |
|
SH2
|
571 |
681 |
9.07e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185516
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: 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. Homozygous knockout mice for this gene exhibit reduced inflammation and cytokine production in response to immune challenge. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to altered cytokine production of T-cells, impaired IL-12 responses, enhanced Th2 cell development, decreased susceptibility to autoimmune diabetes, altered NK cell responses during viral infection, and increased susceptibility to Salmonella infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
T |
4: 53,075,555 (GRCm39) |
R999S |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,962,717 (GRCm39) |
Y503N |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,941 (GRCm39) |
E324G |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atl1 |
A |
T |
12: 69,979,057 (GRCm39) |
T162S |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,770,728 (GRCm39) |
Y394H |
probably damaging |
Het |
| Dennd2d |
A |
G |
3: 106,399,776 (GRCm39) |
H233R |
probably benign |
Het |
| Dhx16 |
G |
T |
17: 36,194,766 (GRCm39) |
M462I |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,784,486 (GRCm39) |
Y253C |
probably damaging |
Het |
| Hsf4 |
G |
A |
8: 105,999,541 (GRCm39) |
G277R |
possibly damaging |
Het |
| Impg1 |
T |
C |
9: 80,223,454 (GRCm39) |
D754G |
probably benign |
Het |
| Keap1 |
T |
C |
9: 21,142,135 (GRCm39) |
S580G |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,441,481 (GRCm39) |
K1162E |
probably benign |
Het |
| Lrrc31 |
C |
T |
3: 30,745,318 (GRCm39) |
V110I |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,426,118 (GRCm39) |
K4738N |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,542,794 (GRCm39) |
|
probably null |
Het |
| Odad2 |
T |
C |
18: 7,286,838 (GRCm39) |
D131G |
probably benign |
Het |
| Or10q1b |
A |
G |
19: 13,682,424 (GRCm39) |
T78A |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,179 (GRCm39) |
M106K |
probably damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,340 (GRCm39) |
Y132F |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,878,740 (GRCm39) |
H1225L |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,583,606 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
| Psen2 |
C |
A |
1: 180,073,234 (GRCm39) |
R29L |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,594,307 (GRCm39) |
|
probably null |
Het |
| Rps13 |
T |
C |
7: 115,930,808 (GRCm39) |
T145A |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
ACGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,544,205 (GRCm39) |
|
probably benign |
Het |
| Taf13 |
T |
A |
3: 108,488,387 (GRCm39) |
I90N |
probably damaging |
Het |
| Tas2r124 |
T |
A |
6: 132,732,416 (GRCm39) |
Y242N |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,619,573 (GRCm39) |
T316A |
unknown |
Het |
| Zbtb44 |
T |
C |
9: 30,965,090 (GRCm39) |
C167R |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,676,236 (GRCm39) |
L714P |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,135,816 (GRCm39) |
H53Q |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,819,043 (GRCm39) |
V1340A |
probably benign |
Het |
|
| Other mutations in Stat4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Stat4
|
APN |
1 |
52,142,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00482:Stat4
|
APN |
1 |
52,113,856 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01395:Stat4
|
APN |
1 |
52,051,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01533:Stat4
|
APN |
1 |
52,137,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Stat4
|
APN |
1 |
52,136,014 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02114:Stat4
|
APN |
1 |
52,142,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02151:Stat4
|
APN |
1 |
52,053,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02601:Stat4
|
APN |
1 |
52,137,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Stat4
|
UTSW |
1 |
52,107,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0243:Stat4
|
UTSW |
1 |
52,051,016 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0329:Stat4
|
UTSW |
1 |
52,130,029 (GRCm39) |
intron |
probably benign |
|
|
R0973:Stat4
|
UTSW |
1 |
52,135,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1144:Stat4
|
UTSW |
1 |
52,123,288 (GRCm39) |
splice site |
probably benign |
|
|
R1187:Stat4
|
UTSW |
1 |
52,115,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Stat4
|
UTSW |
1 |
52,053,086 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1401:Stat4
|
UTSW |
1 |
52,111,106 (GRCm39) |
splice site |
probably benign |
|
|
R1529:Stat4
|
UTSW |
1 |
52,050,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Stat4
|
UTSW |
1 |
52,146,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Stat4
|
UTSW |
1 |
52,053,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3003:Stat4
|
UTSW |
1 |
52,142,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3683:Stat4
|
UTSW |
1 |
52,052,981 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3789:Stat4
|
UTSW |
1 |
52,050,955 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3919:Stat4
|
UTSW |
1 |
52,135,981 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4320:Stat4
|
UTSW |
1 |
52,113,866 (GRCm39) |
missense |
probably benign |
|
|
R4373:Stat4
|
UTSW |
1 |
52,111,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5024:Stat4
|
UTSW |
1 |
52,121,729 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5103:Stat4
|
UTSW |
1 |
52,111,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5206:Stat4
|
UTSW |
1 |
52,144,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5944:Stat4
|
UTSW |
1 |
52,113,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5961:Stat4
|
UTSW |
1 |
52,104,543 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6161:Stat4
|
UTSW |
1 |
52,113,836 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6262:Stat4
|
UTSW |
1 |
52,141,360 (GRCm39) |
missense |
probably null |
1.00 |
|
R6701:Stat4
|
UTSW |
1 |
52,142,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Stat4
|
UTSW |
1 |
52,115,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6989:Stat4
|
UTSW |
1 |
52,107,974 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7507:Stat4
|
UTSW |
1 |
52,117,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7539:Stat4
|
UTSW |
1 |
52,110,868 (GRCm39) |
splice site |
probably null |
|
|
R7546:Stat4
|
UTSW |
1 |
52,137,622 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7616:Stat4
|
UTSW |
1 |
52,053,037 (GRCm39) |
nonsense |
probably null |
|
|
R7751:Stat4
|
UTSW |
1 |
52,121,711 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8052:Stat4
|
UTSW |
1 |
52,118,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8311:Stat4
|
UTSW |
1 |
52,142,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8419:Stat4
|
UTSW |
1 |
52,137,637 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8679:Stat4
|
UTSW |
1 |
52,118,991 (GRCm39) |
missense |
probably null |
1.00 |
|
R8699:Stat4
|
UTSW |
1 |
52,111,096 (GRCm39) |
missense |
probably benign |
|
|
R8738:Stat4
|
UTSW |
1 |
52,115,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8921:Stat4
|
UTSW |
1 |
52,144,892 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9013:Stat4
|
UTSW |
1 |
52,050,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9237:Stat4
|
UTSW |
1 |
52,146,073 (GRCm39) |
missense |
probably benign |
|
|
R9729:Stat4
|
UTSW |
1 |
52,141,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9767:Stat4
|
UTSW |
1 |
52,141,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Stat4
|
UTSW |
1 |
52,137,644 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1177:Stat4
|
UTSW |
1 |
52,123,258 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAACTGAAAGTCATTCTTTGCC -3'
(R):5'- GTTGAATTCACAAGAGTCATGGAG -3'
Sequencing Primer
(F):5'- AAATACTGTGAAACTTTGGGGTC -3'
(R):5'- CACAAGAGTCATGGAGTCTTTATC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation