Mutagenetix > Incidental Mutation

Incidental Mutation 'R3157:Smu1'

263533

Institutional Source

Beutler Lab

Gene Symbol

Smu1

Ensembl Gene

ENSMUSG00000028409

Gene Name

smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)

Synonyms

SMU-1, 2600001O03Rik, 2610203K23Rik

MMRRC Submission

040608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R3157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40736542-40757923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40754529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 123 (R123S)

Ref Sequence

ENSEMBL: ENSMUSP00000030117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030117]

AlphaFold

Q3UKJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030117
AA Change: R123S

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

SMART Domains

Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: R123S

Domain	Start	End	E-Value	Type
LisH	6	38	9.95e-7	SMART
CTLH	40	92	2.32e-7	SMART
WD40	202	242	9.02e-7	SMART
WD40	253	292	3.81e-5	SMART
WD40	295	335	5.26e-8	SMART
WD40	338	377	4.4e-10	SMART
WD40	380	426	1.03e1	SMART
WD40	428	470	2.97e0	SMART
WD40	473	512	9.52e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150574

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	T	13: 8,747,669 (GRCm39)	K408N	probably benign	Het
Aoc2	A	T	11: 101,220,102 (GRCm39)	N696I	probably damaging	Het
Ap1g2	A	T	14: 55,336,731 (GRCm39)	I747N	probably damaging	Het
Arhgap27	T	A	11: 103,224,663 (GRCm39)		probably null	Het
Bmp1	G	T	14: 70,729,547 (GRCm39)	N541K	possibly damaging	Het
Cacna1c	T	A	6: 118,728,485 (GRCm39)	T320S	probably benign	Het
Ccr4	G	T	9: 114,321,350 (GRCm39)	N238K	probably benign	Het
Cd300e	A	C	11: 114,952,849 (GRCm39)	M1R	probably null	Het
Cep95	A	G	11: 106,700,013 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,834,918 (GRCm39)	I1096V	probably benign	Het
D630003M21Rik	A	C	2: 158,037,392 (GRCm39)		probably benign	Het
Dmpk	A	G	7: 18,826,944 (GRCm39)	T579A	probably benign	Het
Dock8	T	C	19: 25,127,195 (GRCm39)	Y1058H	probably benign	Het
Dscam	T	C	16: 96,479,710 (GRCm39)	T1146A	probably benign	Het
Fnip2	T	C	3: 79,474,901 (GRCm39)	T4A	probably damaging	Het
Galnt12	A	G	4: 47,104,264 (GRCm39)	D174G	probably damaging	Het
Gxylt1	A	G	15: 93,142,913 (GRCm39)	I384T	probably benign	Het
Hmcn2	A	G	2: 31,290,267 (GRCm39)	N2367D	probably damaging	Het
Hydin	A	G	8: 110,994,005 (GRCm39)	K13R	unknown	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcns1	G	A	2: 164,006,865 (GRCm39)	A366V	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Klrb1c	G	T	6: 128,761,702 (GRCm39)	T134K	possibly damaging	Het
Med14	G	A	X: 12,550,330 (GRCm39)		probably benign	Het
Mgat4d	T	C	8: 84,081,450 (GRCm39)	Y68H	probably benign	Het
Mmp11	C	T	10: 75,762,948 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,833,400 (GRCm39)	D295E	probably benign	Het
Npas2	C	T	1: 39,386,690 (GRCm39)	T653M	possibly damaging	Het
Nps	A	G	7: 134,873,989 (GRCm39)	D53G	probably benign	Het
Ociad1	A	T	5: 73,467,688 (GRCm39)	R155*	probably null	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Pcdha2	A	G	18: 37,073,145 (GRCm39)	T259A	probably damaging	Het
Pced1a	A	G	2: 130,261,687 (GRCm39)	M322T	probably benign	Het
Pcgf6	T	C	19: 47,028,475 (GRCm39)		probably benign	Het
Pigg	C	T	5: 108,462,014 (GRCm39)	T115I	probably damaging	Het
Plcd4	G	A	1: 74,590,313 (GRCm39)		probably null	Het
Prss52	G	T	14: 64,350,992 (GRCm39)	W259L	probably damaging	Het
Rasal2	A	G	1: 156,986,225 (GRCm39)		probably benign	Het
Rec8	A	G	14: 55,862,763 (GRCm39)	E574G	probably damaging	Het
Sectm1a	A	G	11: 120,959,603 (GRCm39)	I175T	probably benign	Het
Slc16a8	T	C	15: 79,136,375 (GRCm39)	I276V	probably damaging	Het
Slc8a3	C	A	12: 81,361,766 (GRCm39)	R351L	probably damaging	Het
Slc9b1	G	A	3: 135,077,606 (GRCm39)	G100E	probably damaging	Het
Synpr	C	T	14: 13,493,614 (GRCm38)	A64V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,901 (GRCm39)	W680*	probably null	Het
Tpt1	G	A	14: 76,083,840 (GRCm39)		probably benign	Het
Trav18	A	G	14: 54,069,152 (GRCm39)	T65A	probably benign	Het
Ttll4	T	C	1: 74,736,770 (GRCm39)	L1165P	possibly damaging	Het

Other mutations in Smu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02992:Smu1	APN	4	40,739,550 (GRCm39)	missense	probably damaging	0.97
IGL03271:Smu1	APN	4	40,738,408 (GRCm39)	missense	probably benign	0.11
IGL03329:Smu1	APN	4	40,739,568 (GRCm39)	missense	possibly damaging	0.81
PIT4585001:Smu1	UTSW	4	40,739,623 (GRCm39)	missense	probably benign
R0172:Smu1	UTSW	4	40,738,439 (GRCm39)	missense	probably benign	0.00
R1109:Smu1	UTSW	4	40,755,722 (GRCm39)	missense	probably benign	0.12
R1552:Smu1	UTSW	4	40,748,570 (GRCm39)	missense	probably damaging	1.00
R1799:Smu1	UTSW	4	40,745,537 (GRCm39)	missense	probably damaging	1.00
R2093:Smu1	UTSW	4	40,738,438 (GRCm39)	missense	probably benign	0.12
R2143:Smu1	UTSW	4	40,744,073 (GRCm39)	missense	probably damaging	0.99
R3082:Smu1	UTSW	4	40,745,567 (GRCm39)	missense	probably damaging	1.00
R3083:Smu1	UTSW	4	40,745,567 (GRCm39)	missense	probably damaging	1.00
R3113:Smu1	UTSW	4	40,748,658 (GRCm39)	missense	probably benign	0.03
R3158:Smu1	UTSW	4	40,754,529 (GRCm39)	missense	possibly damaging	0.82
R3159:Smu1	UTSW	4	40,754,529 (GRCm39)	missense	possibly damaging	0.82
R3409:Smu1	UTSW	4	40,752,008 (GRCm39)	missense	probably benign
R3411:Smu1	UTSW	4	40,752,008 (GRCm39)	missense	probably benign
R4581:Smu1	UTSW	4	40,737,401 (GRCm39)	splice site	probably null
R5106:Smu1	UTSW	4	40,743,104 (GRCm39)	missense	possibly damaging	0.82
R7747:Smu1	UTSW	4	40,748,600 (GRCm39)	missense	probably benign	0.44
R9029:Smu1	UTSW	4	40,738,361 (GRCm39)	missense	probably damaging	1.00
R9069:Smu1	UTSW	4	40,745,558 (GRCm39)	missense	probably damaging	1.00
R9537:Smu1	UTSW	4	40,755,671 (GRCm39)	missense	probably benign	0.01
R9797:Smu1	UTSW	4	40,739,538 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CCTCCACACATGAATGCCTG -3'
(R):5'- TGACCCTAGCACAGACATCG -3'

Sequencing Primer
(F):5'- TGAATGCCTGCCCAAACAC -3'
(R):5'- GCGGCCTAGTCTACATAGTAAGTTC -3'

Posted On

2015-02-05