Incidental Mutation 'IGL00904:Samsn1'
| ID |
29134 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
75655682-75706154 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 75706008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably benign
Transcript: ENSMUST00000114239
|
| SMART Domains |
Protein: ENSMUSP00000109877
Gene: ENSMUSG00000022876
| 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: ENSMUST00000139691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226794
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,923,135 (GRCm39) |
G236C |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,831,942 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,364,598 (GRCm39) |
G532R |
probably damaging |
Het |
| Bysl |
C |
T |
17: 47,912,796 (GRCm39) |
M331I |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,994 (GRCm39) |
R237* |
probably null |
Het |
| Cndp1 |
A |
G |
18: 84,629,790 (GRCm39) |
S468P |
probably benign |
Het |
| Esd |
A |
G |
14: 74,987,128 (GRCm39) |
*266W |
probably null |
Het |
| F5 |
T |
C |
1: 164,021,578 (GRCm39) |
V1351A |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,920,829 (GRCm39) |
D454G |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,975,195 (GRCm39) |
M1415L |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,602 (GRCm39) |
Y222F |
probably benign |
Het |
| Gtf3c2 |
C |
T |
5: 31,330,202 (GRCm39) |
S299N |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,750,408 (GRCm39) |
D93N |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,328,276 (GRCm39) |
|
probably null |
Het |
| Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,499,017 (GRCm39) |
H308Q |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,462,401 (GRCm39) |
D319G |
probably benign |
Het |
| Mrpl55 |
T |
A |
11: 59,096,499 (GRCm39) |
S84T |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,950,374 (GRCm39) |
V123A |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,406,944 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
T |
4: 97,953,623 (GRCm39) |
P325S |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,794,535 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
C |
11: 97,149,132 (GRCm39) |
V130G |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,597 (GRCm39) |
S51T |
probably damaging |
Het |
| Pja2 |
G |
T |
17: 64,590,526 (GRCm39) |
T669K |
probably damaging |
Het |
| Rnf112 |
G |
T |
11: 61,343,610 (GRCm39) |
D98E |
probably damaging |
Het |
| Rsl1d1 |
G |
A |
16: 11,017,558 (GRCm39) |
T136I |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,721,814 (GRCm39) |
L280P |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,097,398 (GRCm39) |
N1382D |
probably benign |
Het |
| Vmn2r100 |
T |
G |
17: 19,746,262 (GRCm39) |
C474G |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,788 (GRCm39) |
R186H |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,929,302 (GRCm39) |
I1046T |
probably benign |
Het |
|
| Other mutations in Samsn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4372:Samsn1
|
UTSW |
16 |
75,656,344 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation