Mutagenetix > Incidental Mutation

Incidental Mutation 'R5789:Samsn1'

448235

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

043383-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5789 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75655682-75706154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75673336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

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 damaging
Transcript: ENSMUST00000114239
AA Change: D180G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109877
Gene: ENSMUSG00000022876
AA Change: D180G

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

Meta Mutation Damage Score

0.9083

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,076,108 (GRCm39)	F1200S	probably damaging	Het
Ahnak	A	T	19: 8,979,685 (GRCm39)	D323V	probably benign	Het
Aloxe3	T	C	11: 69,017,265 (GRCm39)	Y13H	probably damaging	Het
Aqp1	A	G	6: 55,313,746 (GRCm39)	I91V	probably benign	Het
C9orf72	T	A	4: 35,226,112 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,305,831 (GRCm39)	S318P	probably damaging	Het
Cdan1	A	G	2: 120,560,016 (GRCm39)	F383L	probably benign	Het
Ciao3	T	C	17: 26,000,177 (GRCm39)	C303R	probably benign	Het
Col6a2	T	A	10: 76,440,223 (GRCm39)	E606V	probably damaging	Het
Col6a5	T	C	9: 105,741,807 (GRCm39)	T2371A	possibly damaging	Het
Cops3	T	C	11: 59,721,106 (GRCm39)		probably benign	Het
Coq7	G	T	7: 118,128,929 (GRCm39)	H35Q	possibly damaging	Het
Cp	T	A	3: 20,011,454 (GRCm39)	F3I	probably benign	Het
D630003M21Rik	C	T	2: 158,058,734 (GRCm39)	E389K	possibly damaging	Het
Dclre1c	A	T	2: 3,438,993 (GRCm39)	Q51L	probably damaging	Het
Dhx37	A	C	5: 125,498,103 (GRCm39)	I702S	possibly damaging	Het
Dnah3	G	T	7: 119,542,822 (GRCm39)	A3530D	possibly damaging	Het
Dnajc13	T	C	9: 104,091,387 (GRCm39)	R635G	probably damaging	Het
Dnhd1	A	G	7: 105,354,217 (GRCm39)	S3066G	possibly damaging	Het
Doc2b	T	A	11: 75,676,941 (GRCm39)	H144L	probably damaging	Het
Eif2b3	T	A	4: 116,885,692 (GRCm39)	I78N	probably damaging	Het
Enpp1	A	T	10: 24,523,137 (GRCm39)	H767Q	probably benign	Het
Fam180a	C	A	6: 35,290,461 (GRCm39)	*174L	probably null	Het
Gabra1	A	T	11: 42,073,742 (GRCm39)		probably benign	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm16551	T	A	9: 74,756,535 (GRCm39)		noncoding transcript	Het
Ifi213	C	A	1: 173,396,360 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,411,410 (GRCm39)	V358A	possibly damaging	Het
Kmt2a	T	C	9: 44,731,201 (GRCm39)		probably benign	Het
Mrgprb13	A	T	7: 47,961,946 (GRCm39)		noncoding transcript	Het
Mtrex	A	T	13: 113,027,819 (GRCm39)	N680K	probably benign	Het
Nckap5	A	G	1: 125,955,439 (GRCm39)	F371S	probably damaging	Het
Nudcd1	G	A	15: 44,251,879 (GRCm39)	Q428*	probably null	Het
Pcdhgc5	C	A	18: 37,954,559 (GRCm39)	P611Q	probably damaging	Het
Plekhb1	A	T	7: 100,294,793 (GRCm39)	Y193*	probably null	Het
Prrt1	T	C	17: 34,850,931 (GRCm39)		probably null	Het
Ptpn12	G	A	5: 21,194,013 (GRCm39)	T753I	possibly damaging	Het
Sh2d2a	T	A	3: 87,756,820 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,045,091 (GRCm39)		probably null	Het
Socs3	T	A	11: 117,858,608 (GRCm39)	Q150L	probably benign	Het
Supt6	A	G	11: 78,124,412 (GRCm39)	V23A	unknown	Het
Tcf12	T	C	9: 71,792,518 (GRCm39)	Y119C	probably damaging	Het
Them5	A	G	3: 94,253,908 (GRCm39)	E210G	probably damaging	Het
Tmem135	A	G	7: 88,845,330 (GRCm39)	F167S	possibly damaging	Het
Tmem170	A	G	8: 112,593,032 (GRCm39)	V134A	possibly damaging	Het
Trbv20	A	G	6: 41,165,725 (GRCm39)	Y50C	probably damaging	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xpnpep3	T	A	15: 81,300,065 (GRCm39)		probably benign	Het
Yars1	C	T	4: 129,090,690 (GRCm39)	T78M	probably damaging	Het
Zdhhc16	T	A	19: 41,926,572 (GRCm39)	H98Q	probably damaging	Het
Zfp90	T	C	8: 107,150,605 (GRCm39)	L106P	probably benign	Het
Zscan22	T	G	7: 12,637,853 (GRCm39)	S82A	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
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'- CCACAGTCGATAGGAGATTTACACC -3'
(R):5'- TCCGTTGCTCCAGTTTGAGG -3'

Sequencing Primer
(F):5'- CGATAGGAGATTTACACCCTAGTTC -3'
(R):5'- GCTCCAGTTTGAGGTAATGGTACAG -3'

Posted On

2016-12-15