Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Smn1'

551701

Institutional Source

Beutler Lab

Gene Symbol

Smn1

Ensembl Gene

ENSMUSG00000021645

Gene Name

survival motor neuron 1

Synonyms

SMN

MMRRC Submission

045244-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100261360-100274198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100267648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 225 (P225S)

Ref Sequence

ENSEMBL: ENSMUSP00000022147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022147] [ENSMUST00000091321] [ENSMUST00000140745] [ENSMUST00000143937]

AlphaFold

P97801

Predicted Effect

probably benign
Transcript: ENSMUST00000022147
AA Change: P225S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022147
Gene: ENSMUSG00000021645
AA Change: P225S

Domain	Start	End	E-Value	Type
PDB:3S6N\|M	23	59	3e-18	PDB
low complexity region	70	82	N/A	INTRINSIC
TUDOR	87	146	7.06e-17	SMART
low complexity region	188	246	N/A	INTRINSIC
PDB:4GLI\|A	247	287	1e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000091321

Predicted Effect

probably benign
Transcript: ENSMUST00000140745

Predicted Effect

unknown
Transcript: ENSMUST00000143937
AA Change: P151S

SMART Domains

Protein: ENSMUSP00000119381
Gene: ENSMUSG00000021645
AA Change: P151S

Domain	Start	End	E-Value	Type
TUDOR	13	72	6.15e-17	SMART
low complexity region	114	158	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit cell loss and peri-implantation lethality. Muscle-specific KO mice show muscle necrosis leading to paralysis and death. Neuron-specific KO mice show muscle degeneration associated with loss of motor axons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		probably benign	Het

Other mutations in Smn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02377:Smn1	APN	13	100,272,192 (GRCm39)	unclassified	probably benign
IGL02932:Smn1	APN	13	100,264,472 (GRCm39)	missense	probably benign	0.40
IGL03325:Smn1	APN	13	100,264,365 (GRCm39)	missense	probably damaging	1.00
R0907:Smn1	UTSW	13	100,264,404 (GRCm39)	missense	probably damaging	0.99
R1573:Smn1	UTSW	13	100,263,118 (GRCm39)	missense	probably damaging	1.00
R1629:Smn1	UTSW	13	100,264,404 (GRCm39)	missense	probably damaging	1.00
R4898:Smn1	UTSW	13	100,268,931 (GRCm39)	missense	probably damaging	1.00
R5082:Smn1	UTSW	13	100,273,890 (GRCm39)	splice site	probably benign
R5902:Smn1	UTSW	13	100,263,412 (GRCm39)	missense	probably benign	0.00
R6276:Smn1	UTSW	13	100,264,503 (GRCm39)	missense	possibly damaging	0.66
R6481:Smn1	UTSW	13	100,265,008 (GRCm39)	splice site	probably null
R6758:Smn1	UTSW	13	100,268,946 (GRCm39)	missense	possibly damaging	0.88
R7378:Smn1	UTSW	13	100,264,373 (GRCm39)	missense	probably damaging	0.99
R8178:Smn1	UTSW	13	100,267,303 (GRCm39)	splice site	probably null
R9710:Smn1	UTSW	13	100,272,210 (GRCm39)	missense	possibly damaging	0.88
Z1177:Smn1	UTSW	13	100,263,125 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCCGTTAACTGCTGAGCC -3'
(R):5'- TGAGACTGGGAGAGACCATC -3'

Sequencing Primer
(F):5'- AACTGCTGAGCCATCTCTCCAG -3'
(R):5'- GTAACAGAGGGCCTTCCAGAC -3'

Posted On

2019-05-15