Mutagenetix > Incidental Mutation

Incidental Mutation 'R8081:Samhd1'

629323

Institutional Source

Beutler Lab

Gene Symbol

Samhd1

Ensembl Gene

ENSMUSG00000027639

Gene Name

SAM domain and HD domain, 1

Synonyms

E330031J07Rik

MMRRC Submission

067514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8081 (G1)

Quality Score

85.0076

Status

Not validated

Chromosome

Chromosomal Location

156939454-156977016 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 156943358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 605 (C605*)

Gene Model

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

AlphaFold

Q60710

Predicted Effect

probably benign
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
AA Change: C626*

SMART Domains

Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: C626*

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 null
Transcript: ENSMUST00000139263
AA Change: C605*

SMART Domains

Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: C605*

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: 99.9%
3x: 99.7%
10x: 98.9%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,313 (GRCm39)	E119V	probably damaging	Het
Adamts2	A	T	11: 50,668,004 (GRCm39)	D522V	probably damaging	Het
Agtpbp1	A	T	13: 59,676,221 (GRCm39)	L183*	probably null	Het
Arhgap10	T	C	8: 78,109,375 (GRCm39)	I403V	possibly damaging	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Cdhr1	C	T	14: 36,815,967 (GRCm39)	V144I	probably benign	Het
Cdk20	A	G	13: 64,586,766 (GRCm39)	I339V	probably benign	Het
Ceacam13	A	G	7: 17,747,113 (GRCm39)	K189E	probably damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cgrrf1	A	G	14: 47,091,468 (GRCm39)	T331A	probably benign	Het
Cntn4	G	A	6: 106,651,568 (GRCm39)	V706I	possibly damaging	Het
Csrnp2	T	C	15: 100,387,462 (GRCm39)	D2G	probably damaging	Het
Cux2	A	G	5: 122,007,519 (GRCm39)	I714T	probably benign	Het
Cx3cr1	C	T	9: 119,880,878 (GRCm39)	E175K	possibly damaging	Het
Dennd1c	G	A	17: 57,381,139 (GRCm39)	P163L	possibly damaging	Het
Dhtkd1	C	T	2: 5,928,919 (GRCm39)	E251K	probably damaging	Het
Epas1	C	T	17: 87,136,797 (GRCm39)	P787S	probably benign	Het
Epha2	T	C	4: 141,049,605 (GRCm39)	V737A	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcsk	T	A	8: 111,615,783 (GRCm39)	R515S	probably benign	Het
Fscb	A	T	12: 64,518,802 (GRCm39)	M888K	unknown	Het
Gldc	ACGACC	AC	19: 30,135,987 (GRCm39)		probably null	Het
Gm14443	A	T	2: 175,012,238 (GRCm39)	C69*	probably null	Het
Gm19668	G	A	10: 77,634,420 (GRCm39)	A183V	unknown	Het
Gm49368	A	G	7: 127,726,280 (GRCm39)	R1231G	unknown	Het
Grin2c	T	C	11: 115,140,719 (GRCm39)	Y1133C	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hydin	T	C	8: 111,092,101 (GRCm39)	S425P	possibly damaging	Het
Ifnl3	T	C	7: 28,223,682 (GRCm39)	S173P	probably damaging	Het
Igkv4-63	A	T	6: 69,355,018 (GRCm39)	S88T	possibly damaging	Het
Klhl5	C	A	5: 65,320,268 (GRCm39)	N607K	possibly damaging	Het
Lag3	A	T	6: 124,882,410 (GRCm39)	L362*	probably null	Het
Lats2	C	A	14: 57,937,968 (GRCm39)	G174C	probably damaging	Het
Mcm6	T	C	1: 128,265,905 (GRCm39)	E622G	probably damaging	Het
Med13l	C	A	5: 118,866,333 (GRCm39)	H462Q	probably damaging	Het
Mrpl53	T	A	6: 83,086,159 (GRCm39)	F23I	probably damaging	Het
Muc5b	T	G	7: 141,417,743 (GRCm39)	I3563S	possibly damaging	Het
Myo16	A	C	8: 10,372,743 (GRCm39)	L147F	unknown	Het
Npc1l1	G	C	11: 6,167,768 (GRCm39)	Q1008E	probably benign	Het
Npy4r	A	G	14: 33,868,524 (GRCm39)	S255P	probably damaging	Het
Nup210	T	C	6: 91,053,657 (GRCm39)	N287D	probably benign	Het
Opn3	T	A	1: 175,493,135 (GRCm39)	H143L	probably damaging	Het
Or12e7	G	T	2: 87,287,513 (GRCm39)	M1I	probably null	Het
Or12j3	A	T	7: 139,952,972 (GRCm39)	L184M	probably damaging	Het
Or12j5	A	T	7: 140,084,369 (GRCm39)	M1K	probably null	Het
Or4k2	T	A	14: 50,423,825 (GRCm39)	N284I	probably damaging	Het
Or5ap2b-ps1	C	T	2: 85,693,839 (GRCm39)	P28L	probably damaging	Het
Pdcd7	C	T	9: 65,253,967 (GRCm39)	R182C	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Picalm	T	A	7: 89,840,451 (GRCm39)	L540*	probably null	Het
Ppp1r21	T	A	17: 88,866,272 (GRCm39)	I356N	probably damaging	Het
Rgs6	C	T	12: 83,094,347 (GRCm39)	Q67*	probably null	Het
Ripor2	C	A	13: 24,897,683 (GRCm39)	Q794K	probably benign	Het
Rnf216	A	T	5: 143,013,719 (GRCm39)	I702N	probably damaging	Het
Robo4	T	C	9: 37,316,936 (GRCm39)	L417P	probably damaging	Het
Scaper	C	T	9: 55,823,330 (GRCm39)	G22D	unknown	Het
Senp5	T	C	16: 31,784,577 (GRCm39)	T692A	probably damaging	Het
Six6	G	T	12: 72,986,875 (GRCm39)	G16W	probably damaging	Het
Slc38a8	A	T	8: 120,212,269 (GRCm39)	M358K	possibly damaging	Het
Snx2	T	C	18: 53,349,459 (GRCm39)	F407L	probably benign	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
Syk	A	T	13: 52,792,195 (GRCm39)	M429L	probably benign	Het
Tln2	T	A	9: 67,264,029 (GRCm39)	N537Y	probably damaging	Het
Usp29	T	A	7: 6,966,629 (GRCm39)	M824K	probably benign	Het
Utrn	A	G	10: 12,423,803 (GRCm39)		probably benign	Het
Wdr37	C	T	13: 8,885,406 (GRCm39)	D346N	probably damaging	Het
Zfpm2	T	A	15: 40,965,644 (GRCm39)	C710S	probably damaging	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
IGL02314:Samhd1	APN	2	156,976,948 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCAATCTTGACTGTGCAG -3'
(R):5'- GGAAGCACTTTGTTCAGTGG -3'

Sequencing Primer
(F):5'- GGCACAAACTCCTCAACCTCTTTTAG -3'
(R):5'- ACAGGGTCCTATGTAGCTCAG -3'

Posted On

2020-06-30