Incidental Mutation 'R9635:Samsn1'
| ID |
725772 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9635 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
75655682-75706154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75673457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 140
(T140P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114239]
|
| AlphaFold |
P57725 |
| PDB Structure |
Solution structure of the Sterile Alpha Motif (SAM) domain of mouse SAMSN1 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114239
AA Change: T140P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109877
Gene: ENSMUSG00000022876
AA Change: T140P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
T |
5: 4,100,545 (GRCm39) |
T2736S |
probably benign |
Het |
| AW209491 |
T |
C |
13: 14,811,957 (GRCm39) |
V270A |
probably benign |
Het |
| Best3 |
A |
T |
10: 116,838,450 (GRCm39) |
K169N |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,816 (GRCm39) |
K101R |
probably damaging |
Het |
| Cfhr4 |
C |
T |
1: 139,701,764 (GRCm39) |
V117I |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,461,079 (GRCm39) |
D1223V |
possibly damaging |
Het |
| Commd2 |
T |
C |
3: 57,559,064 (GRCm39) |
D4G |
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,294 (GRCm39) |
T99A |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,320 (GRCm39) |
F60I |
possibly damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dnmbp |
C |
A |
19: 43,855,974 (GRCm39) |
A261S |
probably benign |
Het |
| Fcgbp |
A |
C |
7: 27,800,832 (GRCm39) |
T1293P |
probably benign |
Het |
| Gal3st2b |
A |
C |
1: 93,868,777 (GRCm39) |
N336T |
probably benign |
Het |
| Gm10309 |
T |
C |
17: 86,806,494 (GRCm39) |
T7A |
unknown |
Het |
| Gm10322 |
A |
T |
10: 59,451,931 (GRCm39) |
H16L |
possibly damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,199 (GRCm39) |
L288P |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,899 (GRCm39) |
I142M |
|
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,527 (GRCm39) |
D2438E |
probably benign |
Het |
| Map3k20 |
G |
A |
2: 72,232,403 (GRCm39) |
S353N |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,863,000 (GRCm39) |
D102V |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,972,686 (GRCm39) |
E2120G |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,267 (GRCm39) |
C223* |
probably null |
Het |
| Or5p79 |
A |
G |
7: 108,221,654 (GRCm39) |
I212V |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,299,463 (GRCm39) |
V306A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,510 (GRCm39) |
T297S |
probably benign |
Het |
| Pdcd2l |
A |
C |
7: 33,892,356 (GRCm39) |
L171R |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,113 (GRCm39) |
S154P |
probably benign |
Het |
| Prc1 |
T |
G |
7: 79,962,047 (GRCm39) |
M515R |
probably benign |
Het |
| Rbm34 |
A |
G |
8: 127,696,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,556,940 (GRCm39) |
V379M |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,686,651 (GRCm39) |
R2298* |
probably null |
Het |
| Trim10 |
G |
A |
17: 37,187,890 (GRCm39) |
V369M |
probably damaging |
Het |
| Trpv6 |
T |
C |
6: 41,599,901 (GRCm39) |
N585S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,586,617 (GRCm39) |
D21765N |
possibly damaging |
Het |
| Ubxn6 |
A |
G |
17: 56,376,189 (GRCm39) |
L349P |
probably damaging |
Het |
| Vdac3 |
A |
T |
8: 23,077,575 (GRCm39) |
S37R |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,720 (GRCm39) |
L275F |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,101,375 (GRCm39) |
I964N |
probably damaging |
Het |
| Zdhhc22 |
A |
G |
12: 87,030,396 (GRCm39) |
F184S |
possibly damaging |
Het |
| Zfp512 |
A |
G |
5: 31,623,669 (GRCm39) |
H124R |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,939,354 (GRCm39) |
T843A |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTTTACTGGCAACTTCTGTTAG -3'
(R):5'- TCAGACTGGCAAGAAAGCATC -3'
Sequencing Primer
(F):5'- GGCAACTTCTGTTAGTCCCTAAAATC -3'
(R):5'- TCAAACCTAGCTTACAAGACAGGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation