Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02314:Samhd1'

287954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samhd1

Ensembl Gene

ENSMUSG00000027639

Gene Name

SAM domain and HD domain, 1

Synonyms

E330031J07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02314

Quality Score

Status

Chromosome

Chromosomal Location

156939454-156977016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 156976948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 21 (T21K)

Ref Sequence

ENSEMBL: ENSMUSP00000124599 (fasta)

Gene Model

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

AlphaFold

Q60710

Predicted Effect

probably benign
Transcript: ENSMUST00000057725
AA Change: T52K

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: T52K

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
AA Change: T52K

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: T52K

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

possibly damaging
Transcript: ENSMUST00000109549
AA Change: T52K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: T52K

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: ENSMUST00000123932
AA Change: T21K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124599
Gene: ENSMUSG00000027639
AA Change: T21K

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

Predicted Effect

unknown
Transcript: ENSMUST00000139263
AA Change: T31K

SMART Domains

Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: T31K

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

Coding Region Coverage

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg2	T	A	4: 47,472,143 (GRCm39)	K94*	probably null	Het
Axl	A	G	7: 25,486,345 (GRCm39)	F120L	possibly damaging	Het
Baz2b	A	G	2: 59,792,571 (GRCm39)	V519A	probably benign	Het
Cdk2	A	T	10: 128,539,595 (GRCm39)	I99N	probably damaging	Het
Ces1b	C	A	8: 93,791,524 (GRCm39)	W358C	possibly damaging	Het
Cimap1b	T	G	15: 89,262,372 (GRCm39)	K82N	probably damaging	Het
Clca3b	A	G	3: 144,533,903 (GRCm39)		probably benign	Het
Col6a4	T	G	9: 105,874,355 (GRCm39)	T2211P	probably damaging	Het
Cyp4f14	C	T	17: 33,125,265 (GRCm39)	E438K	probably benign	Het
Dpy19l4	T	A	4: 11,267,720 (GRCm39)	T407S	possibly damaging	Het
Dtx3	G	A	10: 127,026,828 (GRCm39)		probably benign	Het
Eif1ad14	T	A	12: 87,886,377 (GRCm39)	Y84F	probably benign	Het
Fat3	A	T	9: 15,881,134 (GRCm39)	L3246H	possibly damaging	Het
Fat4	A	T	3: 38,941,779 (GRCm39)	D224V	probably damaging	Het
Fndc9	A	T	11: 46,129,122 (GRCm39)	I214F	probably benign	Het
Foxred1	A	T	9: 35,117,264 (GRCm39)	I22N	probably damaging	Het
Gkn1	T	C	6: 87,326,103 (GRCm39)	D29G	probably benign	Het
Gng11	T	A	6: 4,004,317 (GRCm39)	M1K	probably null	Het
Hdac7	T	C	15: 97,706,885 (GRCm39)	D237G	probably damaging	Het
Hgf	A	G	5: 16,777,600 (GRCm39)	Y199C	probably damaging	Het
Hgfac	A	T	5: 35,198,941 (GRCm39)	M1L	probably benign	Het
Hsd17b6	T	C	10: 127,833,777 (GRCm39)	T35A	probably damaging	Het
Htr3a	G	A	9: 48,815,927 (GRCm39)	P170L	probably damaging	Het
Ighv12-3	A	G	12: 114,330,421 (GRCm39)	S25P	probably damaging	Het
Jph2	A	T	2: 163,239,273 (GRCm39)	N58K	probably damaging	Het
Lama5	A	G	2: 179,836,275 (GRCm39)		probably benign	Het
Lpin3	T	A	2: 160,740,638 (GRCm39)	Y394*	probably null	Het
Macf1	G	T	4: 123,338,630 (GRCm39)	T2248K	probably damaging	Het
Map3k2	A	G	18: 32,351,553 (GRCm39)		probably benign	Het
Map4k5	G	A	12: 69,865,213 (GRCm39)	P524S	probably benign	Het
Mcf2l	C	T	8: 13,051,851 (GRCm39)	S359L	probably damaging	Het
Mdh1b	C	T	1: 63,750,273 (GRCm39)		probably null	Het
Mfhas1	G	A	8: 36,055,927 (GRCm39)	R134H	probably damaging	Het
Mogs	A	G	6: 83,095,036 (GRCm39)	T618A	probably benign	Het
Mybpc2	T	A	7: 44,171,812 (GRCm39)	Q39H	possibly damaging	Het
Myoc	C	T	1: 162,466,917 (GRCm39)	R29W	probably damaging	Het
Nae1	A	G	8: 105,252,938 (GRCm39)	M162T	probably damaging	Het
Nfatc3	A	G	8: 106,805,532 (GRCm39)	I126V	probably benign	Het
Nxnl2	C	A	13: 51,325,565 (GRCm39)	F69L	probably benign	Het
Oca2	T	A	7: 56,006,899 (GRCm39)	I662N	probably benign	Het
Or52b3	A	T	7: 102,204,318 (GRCm39)	I276F	probably damaging	Het
Or5w8	A	G	2: 87,688,400 (GRCm39)	N294D	probably damaging	Het
Or7c70	A	T	10: 78,683,099 (GRCm39)	S217T	probably damaging	Het
Or7e176	A	T	9: 20,171,774 (GRCm39)	I213L	probably benign	Het
Pcdhb14	G	A	18: 37,583,248 (GRCm39)	E785K	probably benign	Het
Plb1	A	C	5: 32,438,492 (GRCm39)	Y209S	possibly damaging	Het
Pramel24	T	C	4: 143,455,012 (GRCm39)	S437P	probably benign	Het
Rab44	C	A	17: 29,358,327 (GRCm39)	Q172K	probably benign	Het
Rnf214	A	T	9: 45,811,105 (GRCm39)	V186E	probably benign	Het
Rps6ka1	C	A	4: 133,578,065 (GRCm39)	G522W	probably damaging	Het
Scly	A	G	1: 91,246,763 (GRCm39)	Y358C	probably benign	Het
Sfxn2	A	G	19: 46,571,026 (GRCm39)	N29D	possibly damaging	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slc44a5	G	A	3: 153,962,156 (GRCm39)	S363N	probably damaging	Het
Smg1	A	G	7: 117,753,932 (GRCm39)		probably benign	Het
Tas1r3	A	T	4: 155,945,119 (GRCm39)	C701S	probably damaging	Het
Tmem87a	A	G	2: 120,234,502 (GRCm39)	S14P	possibly damaging	Het
Trmt6	G	A	2: 132,647,378 (GRCm39)	A486V	probably benign	Het
Ttn	G	A	2: 76,727,091 (GRCm39)	R1602*	probably null	Het
Ush2a	A	G	1: 188,365,826 (GRCm39)	M2227V	probably benign	Het
Vmn2r96	A	T	17: 18,804,221 (GRCm39)	Q490H	probably benign	Het
Wdr19	G	T	5: 65,414,463 (GRCm39)	A1279S	probably benign	Het
Zbtb7c	G	A	18: 76,278,937 (GRCm39)	R465H	probably damaging	Het
Zfp473	T	C	7: 44,383,353 (GRCm39)	S326G	probably benign	Het

Other mutations in Samhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Samhd1	APN	2	156,962,468 (GRCm39)	missense	probably damaging	1.00
IGL00903:Samhd1	APN	2	156,949,343 (GRCm39)	splice site	probably benign
IGL01313:Samhd1	APN	2	156,958,321 (GRCm39)	missense	probably damaging	1.00
IGL01775:Samhd1	APN	2	156,956,250 (GRCm39)	splice site	probably benign
IGL02245:Samhd1	APN	2	156,952,475 (GRCm39)	missense	possibly damaging	0.46
R0390:Samhd1	UTSW	2	156,956,151 (GRCm39)	missense	probably damaging	1.00
R0487:Samhd1	UTSW	2	156,952,535 (GRCm39)	missense	probably damaging	1.00
R0842:Samhd1	UTSW	2	156,965,251 (GRCm39)	missense	probably damaging	0.99
R1199:Samhd1	UTSW	2	156,951,381 (GRCm39)	missense	probably damaging	0.99
R1681:Samhd1	UTSW	2	156,943,652 (GRCm39)	missense	probably benign	0.45
R1775:Samhd1	UTSW	2	156,949,467 (GRCm39)	missense	probably benign	0.16
R2859:Samhd1	UTSW	2	156,948,149 (GRCm39)	critical splice donor site	probably null
R2903:Samhd1	UTSW	2	156,965,335 (GRCm39)	missense	possibly damaging	0.95
R2905:Samhd1	UTSW	2	156,965,335 (GRCm39)	missense	possibly damaging	0.95
R3983:Samhd1	UTSW	2	156,965,369 (GRCm39)	missense	possibly damaging	0.81
R4432:Samhd1	UTSW	2	156,946,813 (GRCm39)	missense	probably damaging	0.99
R4576:Samhd1	UTSW	2	156,943,670 (GRCm39)	missense	probably damaging	1.00
R5283:Samhd1	UTSW	2	156,951,412 (GRCm39)	missense	possibly damaging	0.70
R5741:Samhd1	UTSW	2	156,954,751 (GRCm39)	missense	probably benign
R6021:Samhd1	UTSW	2	156,962,474 (GRCm39)	critical splice acceptor site	probably null
R6518:Samhd1	UTSW	2	156,956,217 (GRCm39)	missense	possibly damaging	0.62
R6818:Samhd1	UTSW	2	156,949,417 (GRCm39)	missense	probably benign	0.04
R6924:Samhd1	UTSW	2	156,951,403 (GRCm39)	missense	probably benign	0.00
R7307:Samhd1	UTSW	2	156,976,940 (GRCm39)	missense	probably benign	0.27
R7337:Samhd1	UTSW	2	156,948,164 (GRCm39)	missense	probably damaging	0.99
R7596:Samhd1	UTSW	2	156,943,754 (GRCm39)	missense	probably damaging	1.00
R7892:Samhd1	UTSW	2	156,958,415 (GRCm39)	missense	probably damaging	1.00
R8081:Samhd1	UTSW	2	156,943,358 (GRCm39)	nonsense	probably null
R8234:Samhd1	UTSW	2	156,958,270 (GRCm39)	critical splice donor site	probably null
R8400:Samhd1	UTSW	2	156,941,353 (GRCm39)	missense	probably benign	0.19
R8690:Samhd1	UTSW	2	156,971,794 (GRCm39)	missense	probably benign	0.00
R9090:Samhd1	UTSW	2	156,956,205 (GRCm39)	missense	probably damaging	1.00
R9271:Samhd1	UTSW	2	156,956,205 (GRCm39)	missense	probably damaging	1.00
R9765:Samhd1	UTSW	2	156,965,219 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16