Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Samsn1'

503872

Institutional Source

Beutler Lab

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) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75858793-76022281 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 75945274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114240]

AlphaFold

P57725

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227215

Meta Mutation Damage Score

0.0709

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	Het

Other mutations in Samsn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Samsn1	APN	16	75909120	splice site	probably benign
IGL02220:Samsn1	APN	16	75883875	critical splice donor site	probably null
R0455:Samsn1	UTSW	16	75945225	unclassified	noncoding transcript
R1136:Samsn1	UTSW	16	75873520	missense	probably null	0.00
R1140:Samsn1	UTSW	16	75888742	missense	possibly damaging	0.73
R1180:Samsn1	UTSW	16	75873648	missense	probably damaging	1.00
R1772:Samsn1	UTSW	16	75870775	missense	probably benign	0.01
R1968:Samsn1	UTSW	16	75945573	exon	noncoding transcript
R4035:Samsn1	UTSW	16	75909185	start codon destroyed	probably null	0.99
R4372:Samsn1	UTSW	16	75859456	missense	possibly damaging	0.80
R4725:Samsn1	UTSW	16	75945329	unclassified	noncoding transcript
R4779:Samsn1	UTSW	16	75947289	exon	noncoding transcript
R4795:Samsn1	UTSW	16	75883845	intron	probably benign
R4899:Samsn1	UTSW	16	75879103	missense	probably damaging	1.00
R4905:Samsn1	UTSW	16	75876465	missense	possibly damaging	0.94
R5050:Samsn1	UTSW	16	75888757	missense	probably benign
R5789:Samsn1	UTSW	16	75876448	missense	probably damaging	1.00
R6005:Samsn1	UTSW	16	75873514	missense	probably benign	0.03
R6190:Samsn1	UTSW	16	75870915	missense	probably damaging	1.00
R6630:Samsn1	UTSW	16	75879204	missense	probably benign	0.00
R7086:Samsn1	UTSW	16	75870906	missense	probably benign	0.00
R8289:Samsn1	UTSW	16	75888796	missense	probably damaging	1.00
R9189:Samsn1	UTSW	16	75859561	missense	probably damaging	0.99
R9330:Samsn1	UTSW	16	75876545	missense	probably damaging	1.00
R9635:Samsn1	UTSW	16	75876569	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAAGTACTGGGAGCATCTCTG -3'
(R):5'- TGGACCACAATCCCTTTCTG -3'

Sequencing Primer
(F):5'- AGCATCTCTGATCTTTGGAAGGTC -3'
(R):5'- TGCATCCCTCAGTGGAACTAG -3'

Posted On

2018-02-27