Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01484:Sarm1'

88871

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sarm1

Ensembl Gene

ENSMUSG00000050132

Gene Name

sterile alpha and HEAT/Armadillo motif containing 1

Synonyms

MyD88-5, A830091I15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

IGL01484

Quality Score

Status

Chromosome

Chromosomal Location

78363156-78388580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78381839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 215 (C215S)

Ref Sequence

ENSEMBL: ENSMUSP00000103922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061174] [ENSMUST00000108287]

AlphaFold

Q6PDS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061174
AA Change: C215S

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

SMART Domains

Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132
AA Change: C215S

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
low complexity region	221	236	N/A	INTRINSIC
low complexity region	325	339	N/A	INTRINSIC
SAM	409	476	1.46e-19	SMART
SAM	479	548	9.5e-10	SMART
TIR	561	702	6.73e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108287
AA Change: C215S

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

SMART Domains

Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132
AA Change: C215S

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	121	133	N/A	INTRINSIC
low complexity region	221	236	N/A	INTRINSIC
low complexity region	325	339	N/A	INTRINSIC
SAM	409	476	1.46e-19	SMART
SAM	479	548	2.15e-8	SMART
TIR	601	742	6.73e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170674

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit reduced apoptosis induced by oxygen and glucose deprivation in hippocampal slices. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	G	11: 5,579,006 (GRCm39)	H90R	possibly damaging	Het
Arsj	A	G	3: 126,158,685 (GRCm39)	D88G	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Dagla	A	C	19: 10,225,884 (GRCm39)	L760R	possibly damaging	Het
Dnah1	T	C	14: 31,021,897 (GRCm39)	E1202G	probably damaging	Het
Hdac9	T	C	12: 34,487,164 (GRCm39)	H100R	probably damaging	Het
Hhip	T	C	8: 80,723,412 (GRCm39)	H414R	probably damaging	Het
Hk2	G	A	6: 82,713,711 (GRCm39)	T457M	probably damaging	Het
Iapp	A	G	6: 142,249,165 (GRCm39)	T73A	possibly damaging	Het
Ifit1	A	G	19: 34,626,243 (GRCm39)	N460D	probably damaging	Het
Itpa	T	C	2: 130,514,019 (GRCm39)	F77L	probably benign	Het
Knop1	T	C	7: 118,452,032 (GRCm39)	D229G	probably damaging	Het
Lrrc32	T	C	7: 98,143,442 (GRCm39)	I5T	probably damaging	Het
Myo7a	C	T	7: 97,734,629 (GRCm39)	V622M	probably damaging	Het
N4bp1	T	C	8: 87,571,400 (GRCm39)	E866G	probably damaging	Het
Or2t48	A	T	11: 58,420,222 (GRCm39)	W197R	probably benign	Het
Palmd	G	A	3: 116,746,794 (GRCm39)		probably benign	Het
Pcbp4	A	G	9: 106,337,848 (GRCm39)		probably null	Het
Pigf	T	C	17: 87,316,308 (GRCm39)	I157V	probably benign	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Prl7a2	T	A	13: 27,843,191 (GRCm39)	D204V	probably damaging	Het
Rfc3	A	T	5: 151,566,401 (GRCm39)	D349E	probably benign	Het
Serpine1	T	C	5: 137,092,326 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,520,575 (GRCm39)	V825A	probably damaging	Het
Stx12	A	G	4: 132,611,673 (GRCm39)	S2P	probably damaging	Het
Sycp1	A	C	3: 102,823,183 (GRCm39)	S311R	probably benign	Het
Tfpi	A	T	2: 84,275,169 (GRCm39)	C139*	probably null	Het
Tmc5	T	A	7: 118,256,010 (GRCm39)	I695N	probably damaging	Het
Tmem169	T	C	1: 72,340,263 (GRCm39)	V231A	probably damaging	Het
Ttbk2	T	G	2: 120,570,314 (GRCm39)	S1211R	possibly damaging	Het
Ubr3	C	T	2: 69,851,888 (GRCm39)	R1855*	probably null	Het
Urb1	A	T	16: 90,574,448 (GRCm39)	S878T	probably benign	Het
Vmn1r174	T	A	7: 23,453,749 (GRCm39)	Y138*	probably null	Het
Zfp282	A	G	6: 47,867,054 (GRCm39)	N214D	possibly damaging	Het

Other mutations in Sarm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Sarm1	APN	11	78,381,637 (GRCm39)	missense	probably damaging	0.96
IGL02591:Sarm1	APN	11	78,378,178 (GRCm39)	missense	probably damaging	1.00
R0027:Sarm1	UTSW	11	78,378,917 (GRCm39)	missense	probably damaging	1.00
R0282:Sarm1	UTSW	11	78,365,806 (GRCm39)	nonsense	probably null
R1583:Sarm1	UTSW	11	78,374,153 (GRCm39)	nonsense	probably null
R1800:Sarm1	UTSW	11	78,381,820 (GRCm39)	missense	possibly damaging	0.87
R2101:Sarm1	UTSW	11	78,366,115 (GRCm39)	missense	probably damaging	1.00
R2131:Sarm1	UTSW	11	78,366,133 (GRCm39)	missense	probably benign	0.00
R4474:Sarm1	UTSW	11	78,387,927 (GRCm39)	missense	probably benign	0.01
R5191:Sarm1	UTSW	11	78,387,945 (GRCm39)	nonsense	probably null
R5280:Sarm1	UTSW	11	78,374,302 (GRCm39)	missense	probably damaging	1.00
R5285:Sarm1	UTSW	11	78,388,265 (GRCm39)	missense	probably benign
R5954:Sarm1	UTSW	11	78,381,428 (GRCm39)	nonsense	probably null
R6027:Sarm1	UTSW	11	78,374,384 (GRCm39)	missense	probably benign
R7343:Sarm1	UTSW	11	78,388,083 (GRCm39)	missense	possibly damaging	0.71
R8414:Sarm1	UTSW	11	78,378,794 (GRCm39)	missense	probably damaging	1.00
R9075:Sarm1	UTSW	11	78,374,023 (GRCm39)	missense	probably benign	0.00
R9533:Sarm1	UTSW	11	78,373,996 (GRCm39)	missense	probably damaging	1.00
R9786:Sarm1	UTSW	11	78,365,743 (GRCm39)	missense	probably benign	0.01
R9788:Sarm1	UTSW	11	78,378,863 (GRCm39)	missense	probably damaging	1.00
V7732:Sarm1	UTSW	11	78,378,891 (GRCm39)	missense	probably benign	0.03

Posted On

2013-11-18