Mutagenetix > Incidental Mutations

Incidental Mutation 'R6021:Samhd1'

478921

Institutional Source

Beutler Lab

Gene Symbol

Samhd1

Ensembl Gene

ENSMUSG00000027639

Gene Name

SAM domain and HD domain, 1

Synonyms

E330031J07Rik

MMRRC Submission

044194-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157097533-157135265 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 157120554 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057725] [ENSMUST00000057725] [ENSMUST00000088523] [ENSMUST00000088523] [ENSMUST00000088523] [ENSMUST00000088523] [ENSMUST00000109549] [ENSMUST00000109549] [ENSMUST00000123932] [ENSMUST00000123932]

Predicted Effect

probably null
Transcript: ENSMUST00000057725

SMART Domains

Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	1e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000057725

SMART Domains

Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	1e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088523

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	2e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088523

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	2e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088523

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	2e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088523

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	2e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109549

SMART Domains

Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	1e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109549

SMART Domains

Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
SAM	74	142	4.4e-14	SMART
HDc	192	357	1.89e-9	SMART
Blast:HDc	398	437	1e-16	BLAST
low complexity region	506	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123932

SMART Domains

Protein: ENSMUSP00000124599
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
SAM	43	112	1.51e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123932

SMART Domains

Protein: ENSMUSP00000124599
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
SAM	43	112	1.51e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000139263

SMART Domains

Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	29	45	N/A	INTRINSIC
SAM	54	122	4.4e-14	SMART
HDc	172	337	1.89e-9	SMART
Blast:HDc	378	417	2e-16	BLAST
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139263

SMART Domains

Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639

Domain	Start	End	E-Value	Type
low complexity region	29	45	N/A	INTRINSIC
SAM	54	122	4.4e-14	SMART
HDc	172	337	1.89e-9	SMART
Blast:HDc	378	417	2e-16	BLAST
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152866

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,061,082	T338A	probably damaging	Het
4933427I04Rik	A	G	4: 123,860,716	D141G	possibly damaging	Het
A1bg	T	C	15: 60,919,864	E241G	possibly damaging	Het
Abca13	G	A	11: 9,290,465	W776*	probably null	Het
Akr1b10	T	A	6: 34,392,374		probably null	Het
Atf7	T	C	15: 102,557,473	D84G	probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Azi2	T	A	9: 118,047,419	M1K	probably null	Het
Boc	T	A	16: 44,488,654	M832L	probably benign	Het
Brix1	C	T	15: 10,476,589	R267H	probably benign	Het
Cacna1s	T	C	1: 136,106,487	L1050P	probably benign	Het
Celsr2	G	T	3: 108,401,245	P1789T	probably benign	Het
Crebbp	G	A	16: 4,085,418	R1986C	probably damaging	Het
Crtam	T	A	9: 40,990,181	I150F	probably damaging	Het
Crybg1	G	T	10: 43,997,538	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,190,617	T1017A	probably benign	Het
Dnah10	A	G	5: 124,736,984	E396G	probably damaging	Het
Enpp5	A	T	17: 44,085,319	Y374F	probably benign	Het
Fzd4	G	A	7: 89,407,734	A330T	probably benign	Het
Gabra5	A	G	7: 57,507,992	S25P	probably benign	Het
Ggps1	T	C	13: 14,054,004	Y198C	probably damaging	Het
Gm13101	A	T	4: 143,965,766	C222S	probably benign	Het
Gm13762	G	T	2: 88,973,032	Y286*	probably null	Het
Gm3173	A	C	14: 4,514,873	D39A	probably damaging	Het
Gm4869	A	T	5: 140,469,679	M347L	probably damaging	Het
Grm2	T	C	9: 106,650,800	D295G	probably damaging	Het
H2-Bl	T	G	17: 36,081,274	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,863,204	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,303,604	M343K	possibly damaging	Het
Loxhd1	A	T	18: 77,412,250	D120V	probably damaging	Het
Lrp1	T	C	10: 127,578,014	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,344,427	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,469,231	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,753,680	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063	V128E	probably benign	Het
Mtf2	A	G	5: 108,081,137	I69V	possibly damaging	Het
Myh10	T	A	11: 68,808,862	S1712T	possibly damaging	Het
Mylk3	A	G	8: 85,364,813	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760	N100D	probably benign	Het
Notch2	T	C	3: 98,121,972	F1017S	probably damaging	Het
Olfr1197	G	T	2: 88,728,950	Y216*	probably null	Het
Olfr1253	A	C	2: 89,752,121	S236A	probably benign	Het
P2ry2	T	C	7: 100,998,400	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,457,135		probably null	Het
Pak1	T	C	7: 97,854,463	S2P	probably damaging	Het
Pde8b	A	T	13: 95,026,162	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,345,770		probably benign	Het
Raver1	A	G	9: 21,076,622	L606P	probably damaging	Het
Robo3	C	T	9: 37,422,533	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Rxfp2	A	G	5: 150,063,737	N337S	possibly damaging	Het
Sardh	A	G	2: 27,189,643	V879A	probably benign	Het
Slc4a4	A	T	5: 89,040,402		probably benign	Het
Slc6a11	T	C	6: 114,230,051	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,406,387	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,840,866	I632N	probably damaging	Het
Tmem145	C	T	7: 25,308,845		probably null	Het
Trmt61a	C	A	12: 111,680,977	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,471,471	I95L	probably benign	Het
Vmn1r85	T	C	7: 13,084,689	E176G	probably benign	Het
Vmn2r75	T	C	7: 86,171,612	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,377,948	Y78C	probably damaging	Het
Wrb	T	C	16: 96,145,678		probably benign	Het
Zfp964	G	T	8: 69,663,092	S114I	unknown	Het

Other mutations in Samhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Samhd1	APN	2	157120548	missense	probably damaging	1.00
IGL00903:Samhd1	APN	2	157107423	splice site	probably benign
IGL01313:Samhd1	APN	2	157116401	missense	probably damaging	1.00
IGL01775:Samhd1	APN	2	157114330	splice site	probably benign
IGL02245:Samhd1	APN	2	157110555	missense	possibly damaging	0.46
IGL02314:Samhd1	APN	2	157135028	missense	probably damaging	0.98
R0390:Samhd1	UTSW	2	157114231	missense	probably damaging	1.00
R0487:Samhd1	UTSW	2	157110615	missense	probably damaging	1.00
R0842:Samhd1	UTSW	2	157123331	missense	probably damaging	0.99
R1199:Samhd1	UTSW	2	157109461	missense	probably damaging	0.99
R1681:Samhd1	UTSW	2	157101732	missense	probably benign	0.45
R1775:Samhd1	UTSW	2	157107547	missense	probably benign	0.16
R2859:Samhd1	UTSW	2	157106229	critical splice donor site	probably null
R2903:Samhd1	UTSW	2	157123415	missense	possibly damaging	0.95
R2905:Samhd1	UTSW	2	157123415	missense	possibly damaging	0.95
R3983:Samhd1	UTSW	2	157123449	missense	possibly damaging	0.81
R4432:Samhd1	UTSW	2	157104893	missense	probably damaging	0.99
R4576:Samhd1	UTSW	2	157101750	missense	probably damaging	1.00
R5283:Samhd1	UTSW	2	157109492	missense	possibly damaging	0.70
R5741:Samhd1	UTSW	2	157112831	missense	probably benign
R6518:Samhd1	UTSW	2	157114297	missense	possibly damaging	0.62
R6818:Samhd1	UTSW	2	157107497	missense	probably benign	0.04
R6924:Samhd1	UTSW	2	157109483	missense	probably benign	0.00
R7307:Samhd1	UTSW	2	157135020	missense	probably benign	0.27
R7337:Samhd1	UTSW	2	157106244	missense	probably damaging	0.99
R7596:Samhd1	UTSW	2	157101834	missense	probably damaging	1.00
R7892:Samhd1	UTSW	2	157116495	missense	probably damaging	1.00
R8081:Samhd1	UTSW	2	157101438	nonsense	probably null
R8234:Samhd1	UTSW	2	157116350	critical splice donor site	probably null
R8400:Samhd1	UTSW	2	157099433	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CCAGGGAAGGATGCTACAAC -3'
(R):5'- GACCAATCCAAGCAGTGTTAAC -3'

Sequencing Primer
(F):5'- CACACAGAAGGAAACAGATCTTAG -3'
(R):5'- GCAGTGTTAACTTTCCAATATGGCC -3'

Posted On

2017-06-26