Incidental Mutation 'R0970:Stradb'
| ID |
84006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stradb
|
| Ensembl Gene |
ENSMUSG00000026027 |
| Gene Name |
STE20-related kinase adaptor beta |
| Synonyms |
PRO1038, D1Ucla2, Als2cr2 |
| MMRRC Submission |
039099-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59012681-59034281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59016219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 3
(L3F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027185]
[ENSMUST00000027186]
[ENSMUST00000114296]
[ENSMUST00000123301]
[ENSMUST00000153990]
[ENSMUST00000173590]
|
| AlphaFold |
Q8K4T3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027185
AA Change: L3F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: L3F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
58 |
290 |
3.2e-26 |
PFAM |
|
Pfam:Pkinase
|
58 |
369 |
7.9e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027186
|
| SMART Domains |
Protein: ENSMUSP00000027186
Gene: ENSMUSG00000026028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
48 |
353 |
2.5e-135 |
PFAM |
|
Pfam:Milton
|
426 |
565 |
3e-26 |
PFAM |
|
low complexity region
|
663 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114296
AA Change: L3F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027
AA Change: L3F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
58 |
185 |
1.1e-16 |
PFAM |
|
Pfam:Pkinase_Tyr
|
58 |
188 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123301
AA Change: L3F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027
AA Change: L3F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
58 |
184 |
2.7e-17 |
PFAM |
|
Pfam:Pkinase_Tyr
|
58 |
185 |
1.1e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147637
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153990
AA Change: L3F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173590
|
| SMART Domains |
Protein: ENSMUSP00000134499
Gene: ENSMUSG00000026028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
2 |
52 |
9.4e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.0649 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,661,364 (GRCm39) |
S307P |
probably damaging |
Het |
| Amdhd2 |
C |
T |
17: 24,375,544 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
T |
7: 144,149,308 (GRCm39) |
M851K |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,740,834 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,965,516 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| C87436 |
G |
A |
6: 86,424,310 (GRCm39) |
V281M |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,157,652 (GRCm39) |
K184E |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,370,208 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,465,438 (GRCm39) |
T383A |
probably benign |
Het |
| Commd5 |
A |
T |
15: 76,784,885 (GRCm39) |
|
probably null |
Het |
| Cyp4b1 |
G |
A |
4: 115,492,833 (GRCm39) |
A292V |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,324 (GRCm39) |
L696P |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,514,722 (GRCm39) |
R510G |
probably damaging |
Het |
| Eno3 |
T |
C |
11: 70,551,628 (GRCm39) |
I196T |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,069,084 (GRCm39) |
E137G |
probably damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,620,625 (GRCm39) |
|
probably null |
Het |
| Ggnbp2 |
T |
C |
11: 84,753,138 (GRCm39) |
M34V |
possibly damaging |
Het |
| Gpihbp1 |
G |
A |
15: 75,469,795 (GRCm39) |
S170N |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,942,092 (GRCm39) |
S528P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,613,372 (GRCm39) |
Q832L |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,233,901 (GRCm39) |
P1861Q |
probably damaging |
Het |
| Or52n5 |
A |
C |
7: 104,588,284 (GRCm39) |
M184L |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,213,549 (GRCm39) |
I1782N |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,304,983 (GRCm39) |
S1757T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,932,331 (GRCm39) |
W523C |
probably damaging |
Het |
| Pmm2 |
G |
T |
16: 8,460,640 (GRCm39) |
L31F |
probably damaging |
Het |
| Ppm1f |
T |
C |
16: 16,721,457 (GRCm39) |
|
probably null |
Het |
| Prss16 |
T |
C |
13: 22,189,287 (GRCm39) |
Y34C |
probably damaging |
Het |
| Slc10a2 |
C |
G |
8: 5,155,115 (GRCm39) |
E23D |
probably benign |
Het |
| Smc5 |
T |
A |
19: 23,216,362 (GRCm39) |
I489F |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,343,762 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
C |
G |
17: 34,917,917 (GRCm39) |
P2277A |
possibly damaging |
Het |
| Tpm2 |
T |
A |
4: 43,515,968 (GRCm39) |
I270F |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,335 (GRCm39) |
L1484Q |
possibly damaging |
Het |
| Xylt1 |
G |
A |
7: 117,233,963 (GRCm39) |
V497I |
probably damaging |
Het |
|
| Other mutations in Stradb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00784:Stradb
|
APN |
1 |
59,027,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00843:Stradb
|
APN |
1 |
59,033,568 (GRCm39) |
missense |
probably benign |
|
|
IGL01288:Stradb
|
APN |
1 |
59,031,460 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02045:Stradb
|
APN |
1 |
59,028,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02818:Stradb
|
APN |
1 |
59,019,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0047:Stradb
|
UTSW |
1 |
59,028,957 (GRCm39) |
missense |
probably null |
0.86 |
|
R0739:Stradb
|
UTSW |
1 |
59,016,174 (GRCm39) |
unclassified |
probably benign |
|
|
R1809:Stradb
|
UTSW |
1 |
59,033,549 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1930:Stradb
|
UTSW |
1 |
59,030,264 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1931:Stradb
|
UTSW |
1 |
59,030,264 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1932:Stradb
|
UTSW |
1 |
59,030,264 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2570:Stradb
|
UTSW |
1 |
59,027,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Stradb
|
UTSW |
1 |
59,031,828 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3104:Stradb
|
UTSW |
1 |
59,031,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3105:Stradb
|
UTSW |
1 |
59,031,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3106:Stradb
|
UTSW |
1 |
59,031,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3772:Stradb
|
UTSW |
1 |
59,024,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4120:Stradb
|
UTSW |
1 |
59,019,168 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4417:Stradb
|
UTSW |
1 |
59,033,531 (GRCm39) |
missense |
probably benign |
|
|
R4569:Stradb
|
UTSW |
1 |
59,019,117 (GRCm39) |
nonsense |
probably null |
|
|
R4601:Stradb
|
UTSW |
1 |
59,032,731 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4758:Stradb
|
UTSW |
1 |
59,027,730 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4786:Stradb
|
UTSW |
1 |
59,030,367 (GRCm39) |
intron |
probably benign |
|
|
R4944:Stradb
|
UTSW |
1 |
59,019,599 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5113:Stradb
|
UTSW |
1 |
59,030,333 (GRCm39) |
intron |
probably benign |
|
|
R5568:Stradb
|
UTSW |
1 |
59,031,901 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5765:Stradb
|
UTSW |
1 |
59,031,903 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5970:Stradb
|
UTSW |
1 |
59,019,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6234:Stradb
|
UTSW |
1 |
59,027,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7411:Stradb
|
UTSW |
1 |
59,027,677 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7511:Stradb
|
UTSW |
1 |
59,032,108 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7569:Stradb
|
UTSW |
1 |
59,030,310 (GRCm39) |
missense |
unknown |
|
|
R7575:Stradb
|
UTSW |
1 |
59,027,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7646:Stradb
|
UTSW |
1 |
59,033,567 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7658:Stradb
|
UTSW |
1 |
59,031,885 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8306:Stradb
|
UTSW |
1 |
59,030,356 (GRCm39) |
missense |
unknown |
|
|
R8812:Stradb
|
UTSW |
1 |
59,033,478 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1176:Stradb
|
UTSW |
1 |
59,032,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTCCCCTGATGCTCAGAAGTG -3'
(R):5'- GTCCTCCCAAGGTCCCACAATTTAAAG -3'
Sequencing Primer
(F):5'- CTTTGTGCCAATGAGCAGC -3'
(R):5'- CAAGATATGACTGGCATCTAAGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation