Incidental Mutation 'R4372:Samsn1'
| ID |
326035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samsn1
|
| Ensembl Gene |
ENSMUSG00000022876 |
| Gene Name |
SAM domain, SH3 domain and nuclear localization signals, 1 |
| Synonyms |
4930571B16Rik, Hacs1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4372 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
75655682-75706154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75656344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 368
(T368I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114239]
[ENSMUST00000114240]
|
| AlphaFold |
P57725 |
| PDB Structure |
Solution structure of the Sterile Alpha Motif (SAM) domain of mouse SAMSN1 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114239
AA Change: T368I
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109877
Gene: ENSMUSG00000022876
AA Change: T368I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLY
|
17 |
164 |
4.7e-57 |
PFAM |
|
SH3
|
166 |
223 |
8.78e-4 |
SMART |
|
SAM
|
238 |
305 |
7.6e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114240
|
| SMART Domains |
Protein: ENSMUSP00000109878
Gene: ENSMUSG00000022876
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
Pfam:SLY
|
146 |
293 |
1.1e-55 |
PFAM |
|
SH3
|
295 |
352 |
8.78e-4 |
SMART |
|
SAM
|
367 |
434 |
7.6e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226794
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced adaptive immunity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
C |
11: 106,919,293 (GRCm39) |
Y213H |
probably damaging |
Het |
| Alg5 |
T |
C |
3: 54,646,376 (GRCm39) |
|
probably null |
Het |
| Bend7 |
A |
T |
2: 4,754,421 (GRCm39) |
I175F |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,879 (GRCm39) |
R715H |
probably damaging |
Het |
| Ipp |
T |
A |
4: 116,372,560 (GRCm39) |
D196E |
possibly damaging |
Het |
| Kcna5 |
A |
G |
6: 126,510,320 (GRCm39) |
*603Q |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,960,497 (GRCm39) |
T1161A |
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,762,531 (GRCm39) |
Q468L |
probably damaging |
Het |
| Map7d2 |
A |
G |
X: 158,273,680 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,743,809 (GRCm39) |
E4015G |
probably benign |
Het |
| Mri1 |
A |
G |
8: 84,980,554 (GRCm39) |
V296A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,007,386 (GRCm39) |
S516P |
probably damaging |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,366 (GRCm39) |
S481P |
possibly damaging |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Pklr |
C |
T |
3: 89,052,830 (GRCm39) |
R528* |
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sema4d |
T |
C |
13: 51,866,767 (GRCm39) |
E241G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,964,599 (GRCm39) |
G729R |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,656 (GRCm39) |
V721A |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,092,930 (GRCm39) |
Y1076F |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,845,833 (GRCm39) |
|
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,697 (GRCm39) |
S689G |
probably benign |
Het |
|
| Other mutations in Samsn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Samsn1
|
APN |
16 |
75,706,008 (GRCm39) |
splice site |
probably benign |
|
|
IGL02220:Samsn1
|
APN |
16 |
75,680,763 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0455:Samsn1
|
UTSW |
16 |
75,742,113 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R1136:Samsn1
|
UTSW |
16 |
75,670,408 (GRCm39) |
missense |
probably null |
0.00 |
|
R1140:Samsn1
|
UTSW |
16 |
75,685,630 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1180:Samsn1
|
UTSW |
16 |
75,670,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Samsn1
|
UTSW |
16 |
75,667,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1968:Samsn1
|
UTSW |
16 |
75,742,461 (GRCm39) |
exon |
noncoding transcript |
|
|
R4035:Samsn1
|
UTSW |
16 |
75,706,073 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4725:Samsn1
|
UTSW |
16 |
75,742,217 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R4779:Samsn1
|
UTSW |
16 |
75,744,177 (GRCm39) |
exon |
noncoding transcript |
|
|
R4795:Samsn1
|
UTSW |
16 |
75,680,733 (GRCm39) |
intron |
probably benign |
|
|
R4899:Samsn1
|
UTSW |
16 |
75,675,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Samsn1
|
UTSW |
16 |
75,673,353 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5050:Samsn1
|
UTSW |
16 |
75,685,645 (GRCm39) |
missense |
probably benign |
|
|
R5789:Samsn1
|
UTSW |
16 |
75,673,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Samsn1
|
UTSW |
16 |
75,670,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6190:Samsn1
|
UTSW |
16 |
75,667,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Samsn1
|
UTSW |
16 |
75,742,162 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R6630:Samsn1
|
UTSW |
16 |
75,676,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7086:Samsn1
|
UTSW |
16 |
75,667,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8289:Samsn1
|
UTSW |
16 |
75,685,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Samsn1
|
UTSW |
16 |
75,656,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9330:Samsn1
|
UTSW |
16 |
75,673,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9635:Samsn1
|
UTSW |
16 |
75,673,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGGCTTGCATCATGTC -3'
(R):5'- AAAAGGAATCCGTGCCTCTATC -3'
Sequencing Primer
(F):5'- CAGGCAGGTAAACTTTAACACATAG -3'
(R):5'- TCCTCAAACCCAGACATCTTGAGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation