Incidental Mutation 'R6630:Samsn1'
| ID |
525082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samsn1
|
| Ensembl Gene |
ENSMUSG00000022876 |
| Gene Name |
SAM domain, SH3 domain and nuclear localization signals, 1 |
| Synonyms |
4930571B16Rik, Hacs1 |
| MMRRC Submission |
044752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
75655682-75706154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75676092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 101
(A101V)
|
| 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
AA Change: A101V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109877
Gene: ENSMUSG00000022876
AA Change: A101V
| 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: ENSMUST00000226794
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,495,971 (GRCm39) |
T136A |
probably benign |
Het |
| Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,659 (GRCm39) |
I349N |
probably damaging |
Het |
| Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,792,247 (GRCm39) |
V254M |
possibly damaging |
Het |
| Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
| Heca |
G |
A |
10: 17,783,856 (GRCm39) |
R104* |
probably null |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Map1s |
T |
C |
8: 71,366,442 (GRCm39) |
V449A |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
| Mapre3 |
G |
T |
5: 31,019,886 (GRCm39) |
V56F |
probably damaging |
Het |
| Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
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 |
|
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 |
|
|
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'- TGTTTTGAACTAGCTTATCCCAGGC -3'
(R):5'- CCACAATAAGTAATGTCTCATCTAGGG -3'
Sequencing Primer
(F):5'- GAACTAGCTTATCCCAGGCTCCATG -3'
(R):5'- GGAATTTTCCCAAGTATCCTCTAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation