Mutagenetix > Incidental Mutations

Incidental Mutation 'R7596:Samhd1'

587708

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 #

R7596 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157097533-157135265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 157101834 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 587 (F587I)

Ref Sequence

ENSEMBL: ENSMUSP00000059717 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000057725
AA Change: F587I

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

SMART Domains

Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: F587I

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 damaging
Transcript: ENSMUST00000088523
AA Change: F587I

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

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: F587I

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: 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

SMART Domains

Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: F566I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (53/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,759,336	S146N	probably damaging	Het
Adam26b	A	C	8: 43,520,200	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,472,314	R547L	probably benign	Het
Bckdk	G	T	7: 127,906,400	E232*	probably null	Het
C8a	T	C	4: 104,853,867	K244E	possibly damaging	Het
Cad	A	G	5: 31,069,048	I1145V	probably benign	Het
Cd28	C	A	1: 60,763,328	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,881,887	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,762,206	N1298S	probably benign	Het
Cpne5	C	T	17: 29,226,217	D38N	possibly damaging	Het
Dcn	A	T	10: 97,510,009	I228F	probably damaging	Het
Gm10696	T	A	3: 94,176,430	T25S	probably benign	Het
Gm5591	T	G	7: 38,520,184	I422L	probably benign	Het
Gnptab	T	G	10: 88,443,370	F1201V	probably damaging	Het
Hc	A	G	2: 35,000,847	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,936,061	N385D	probably benign	Het
Ikbip	A	T	10: 91,083,029		probably benign	Het
Kcnk1	T	C	8: 125,995,611	L51P	probably damaging	Het
Lcn2	A	G	2: 32,385,709	Y160H	probably damaging	Het
Lig1	T	C	7: 13,305,998	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,643,355	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,461,886	T394M	probably damaging	Het
Map7	A	G	10: 20,278,181	N681S	unknown	Het
Mdga2	A	T	12: 66,506,123	M912K	probably damaging	Het
Mlst8	C	T	17: 24,478,110		probably null	Het
Ms4a13	A	T	19: 11,169,965	V195D	unknown	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Nr4a2	G	C	2: 57,108,231	F574L	probably damaging	Het
Nup107	T	C	10: 117,777,160	N288D	probably damaging	Het
Olfr1469	C	T	19: 13,411,147	H193Y	probably benign	Het
Olfr211	T	A	6: 116,494,197	V196D	probably benign	Het
Olfr742	A	T	14: 50,515,545	T114S	probably benign	Het
Pcolce	A	G	5: 137,606,825		probably null	Het
Pik3cg	A	G	12: 32,204,741	F416L	probably damaging	Het
Podnl1	A	G	8: 84,126,395	I65V		Het
Prpf8	T	C	11: 75,491,504	F387S	probably benign	Het
Rev3l	A	G	10: 39,821,538	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,712,313	T430A	probably benign	Het
Rnf187	T	C	11: 58,938,415	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,466,383	V57I	probably benign	Het
Slc30a6	A	G	17: 74,415,669	T244A	probably benign	Het
Slc35f4	T	A	14: 49,306,209	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,482,793	Y648C	probably damaging	Het
Smc5	A	C	19: 23,214,169	V889G	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Tango2	A	G	16: 18,302,710	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,713	T995A	probably benign	Het
Trio	A	T	15: 27,749,826	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,280,124	F1829L	probably damaging	Het
Ttn	A	G	2: 76,808,579	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,986,743	N133S	probably damaging	Het
Ubn1	T	A	16: 5,081,558	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,306,707	T705M	unknown	Het
Vmn2r109	A	T	17: 20,540,680	M805K	probably damaging	Het
Vsig10	T	C	5: 117,334,783	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,832,404	V203L	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
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'- CTTTCGGGCTTTCCTTAAAGATTG -3'
(R):5'- GCGCAGTGCTTTTAACTCAAC -3'

Sequencing Primer
(F):5'- TACACTCGCATCTTGGGAAG -3'
(R):5'- GTTCTTGGCAGAGTGAAC -3'

Posted On

2019-10-24