Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01476:Sarm1'

88465

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 #

IGL01476

Quality Score

Status

Chromosome

Chromosomal Location

78363156-78388580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78381637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 282 (E282G)

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: E282G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132
AA Change: E282G

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: E282G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132
AA Change: E282G

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,353,834 (GRCm39)	T3719A	probably damaging	Het
Abcc10	A	G	17: 46,638,863 (GRCm39)		probably benign	Het
Atp13a2	G	A	4: 140,728,081 (GRCm39)	C558Y	probably damaging	Het
Btbd1	G	A	7: 81,450,797 (GRCm39)	R328*	probably null	Het
Cdk8	A	G	5: 146,231,973 (GRCm39)		probably null	Het
Chd8	A	T	14: 52,442,947 (GRCm39)	N534K	probably benign	Het
Cybc1	T	C	11: 121,116,671 (GRCm39)	Y86C	probably damaging	Het
Dlgap2	C	T	8: 14,828,301 (GRCm39)	R570*	probably null	Het
Eri2	A	C	7: 119,389,472 (GRCm39)	F149V	probably damaging	Het
Esyt1	A	G	10: 128,347,363 (GRCm39)	M1054T	probably damaging	Het
Gcm2	A	G	13: 41,259,217 (GRCm39)	V84A	probably damaging	Het
Got1	A	C	19: 43,512,848 (GRCm39)	V16G	probably damaging	Het
Itga9	C	T	9: 118,436,179 (GRCm39)	R62C	probably damaging	Het
Kif21a	T	C	15: 90,828,067 (GRCm39)	R1232G	possibly damaging	Het
Map1a	A	G	2: 121,135,688 (GRCm39)	Y1930C	probably damaging	Het
Or1e25	T	C	11: 73,494,056 (GRCm39)	S217P	probably damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or2ag2b	G	A	7: 106,417,827 (GRCm39)	C179Y	probably damaging	Het
Pclo	A	G	5: 14,571,122 (GRCm39)	K169R	probably damaging	Het
Rnf169	A	C	7: 99,604,691 (GRCm39)	Y174D	probably damaging	Het
Sec24a	A	G	11: 51,599,783 (GRCm39)	S840P	possibly damaging	Het
Skor2	A	T	18: 76,946,362 (GRCm39)	Q28L	unknown	Het
Slc35f2	T	C	9: 53,713,990 (GRCm39)	V168A	possibly damaging	Het
Slc6a7	A	T	18: 61,138,845 (GRCm39)	L221Q	probably damaging	Het
Spata31e5	A	T	1: 28,816,534 (GRCm39)	H499Q	probably benign	Het
Syt4	A	T	18: 31,574,696 (GRCm39)	V307E	probably damaging	Het
Tasp1	A	G	2: 139,850,693 (GRCm39)	L110S	probably benign	Het
Thnsl1	T	A	2: 21,216,970 (GRCm39)	D241E	probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tpbpb	A	T	13: 61,049,948 (GRCm39)	D60E	probably benign	Het
Trip11	T	C	12: 101,865,170 (GRCm39)	I168V	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Wscd2	A	G	5: 113,710,382 (GRCm39)	D302G	probably damaging	Het

Other mutations in Sarm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Sarm1	APN	11	78,381,839 (GRCm39)	missense	probably damaging	1.00
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