Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Samhd1'

647801

Institutional Source

Beutler Lab

Gene Symbol

Samhd1

Ensembl Gene

ENSMUSG00000027639

Gene Name

SAM domain and HD domain, 1

Synonyms

E330031J07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157097533-157135265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157099433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 648 (E648G)

Ref Sequence

ENSEMBL: ENSMUSP00000059717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057725] [ENSMUST00000088523] [ENSMUST00000099140] [ENSMUST00000109549] [ENSMUST00000123932] [ENSMUST00000166140]

AlphaFold

Q60710

Predicted Effect

probably benign
Transcript: ENSMUST00000057725
AA Change: E648G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: E648G

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: 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 benign
Transcript: ENSMUST00000099140

SMART Domains

Protein: ENSMUSP00000096743
Gene: ENSMUSG00000074628

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
TLDc	36	198	8.47e-58	SMART

Predicted Effect

probably benign
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: 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 benign
Transcript: ENSMUST00000166140

SMART Domains

Protein: ENSMUSP00000129278
Gene: ENSMUSG00000074628

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
TLDc	50	212	8.47e-58	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,293,925	M1929I	probably benign	Het
Abca13	T	C	11: 9,298,218	I2655T	probably damaging	Het
Acad10	A	G	5: 121,626,205	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494	D688V	probably damaging	Het
C4bp	C	A	1: 130,636,747	C400F	probably damaging	Het
Col6a6	A	C	9: 105,774,796	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205	S15P	probably benign	Het
Dgkb	T	C	12: 38,602,838		probably null	Het
Disc1	T	C	8: 125,232,993	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,438,816	N243K	probably benign	Het
Fchsd2	A	T	7: 101,253,573	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,643,417	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572		probably benign	Het
Smarca5	T	C	8: 80,709,127	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Stra6l	G	A	4: 45,864,905	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,216,005	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,789,880	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100	T236A	probably benign	Het
Vwa1	T	C	4: 155,772,768	H191R	probably benign	Het
Zdbf2	T	A	1: 63,304,976	V838E	possibly damaging	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
R6021:Samhd1	UTSW	2	157120554	critical splice acceptor site	probably null
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
R8690:Samhd1	UTSW	2	157129874	missense	probably benign	0.00
R9090:Samhd1	UTSW	2	157114285	missense	probably damaging	1.00
R9271:Samhd1	UTSW	2	157114285	missense	probably damaging	1.00
R9765:Samhd1	UTSW	2	157123299	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTGAATGAAAACGAGACCCC -3'
(R):5'- GTACAGCTTTGAATTTCTCAAGAGG -3'

Sequencing Primer
(F):5'- CCCCACCCCAGCACGAG -3'
(R):5'- CAATCTATGTTCAGGACAGAGGTGTG -3'

Posted On

2020-09-02