Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Samsn1'

394616

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

042640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75655682-75706154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75685645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 38 (S38P)

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: S38P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109877
Gene: ENSMUSG00000022876
AA Change: S38P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	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
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'- ATGCCCAATGTGGTACTAGGC -3'
(R):5'- ATATCCAATGGCTTTTGATGGCTGG -3'

Sequencing Primer
(F):5'- GTGGTACTAGGCCCTAAATATTGTCC -3'
(R):5'- GCTGGAAGGACTTTTAATAGTTTTCC -3'

Posted On

2016-06-15