Incidental Mutation 'R4415:Stambp'
| ID |
326789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stambp
|
| Ensembl Gene |
ENSMUSG00000006906 |
| Gene Name |
STAM binding protein |
| Synonyms |
5730422L11Rik, 5330424L14Rik, Amsh |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.812)
|
| Stock # |
R4415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83520193-83549711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83534464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 274
(N274K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068054]
[ENSMUST00000206400]
[ENSMUST00000206592]
|
| AlphaFold |
Q9CQ26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068054
AA Change: N274K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: N274K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
8 |
117 |
4.9e-23 |
PFAM |
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
200 |
N/A |
INTRINSIC |
|
JAB_MPN
|
256 |
382 |
1.81e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205648
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206400
AA Change: N274K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206592
AA Change: N274K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die of starvation at weaning exhibiting postnatal growth retardation, limb-clasping, a hypocellular cerebral cortex, and severe loss of hippocampal CA1 neurons accompanied by apoptosis; one-third of mutant mice display blepharoptosis. [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 |
|---|
| Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
probably damaging |
Het |
|
| Other mutations in Stambp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Stambp
|
APN |
6 |
83,533,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00720:Stambp
|
APN |
6 |
83,547,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02019:Stambp
|
APN |
6 |
83,529,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Stambp
|
APN |
6 |
83,533,363 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02716:Stambp
|
APN |
6 |
83,533,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03069:Stambp
|
APN |
6 |
83,538,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
denouement
|
UTSW |
6 |
83,528,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Stambp
|
UTSW |
6 |
83,547,321 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0699:Stambp
|
UTSW |
6 |
83,533,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Stambp
|
UTSW |
6 |
83,540,803 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2234:Stambp
|
UTSW |
6 |
83,528,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Stambp
|
UTSW |
6 |
83,534,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Stambp
|
UTSW |
6 |
83,538,960 (GRCm39) |
nonsense |
probably null |
|
|
R4857:Stambp
|
UTSW |
6 |
83,533,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5109:Stambp
|
UTSW |
6 |
83,540,803 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5578:Stambp
|
UTSW |
6 |
83,538,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7378:Stambp
|
UTSW |
6 |
83,540,888 (GRCm39) |
missense |
not run |
|
|
R7652:Stambp
|
UTSW |
6 |
83,540,910 (GRCm39) |
splice site |
probably null |
|
|
R8353:Stambp
|
UTSW |
6 |
83,538,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Stambp
|
UTSW |
6 |
83,524,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9208:Stambp
|
UTSW |
6 |
83,528,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Stambp
|
UTSW |
6 |
83,534,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATTAAGCCTCCTTCTCACC -3'
(R):5'- CACTATTCCAAAGGGAGAAATAGGC -3'
Sequencing Primer
(F):5'- ATTGGCCCAAGACTTGTCAG -3'
(R):5'- ATGGCTGATCCCTACGGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation