Mutagenetix > Incidental Mutation

Incidental Mutation 'R3411:Smu1'

267704

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

040629-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R3411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40736542-40757923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40752008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 183 (T183A)

Ref Sequence

ENSEMBL: ENSMUSP00000030117 (fasta)

Gene Model

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

AlphaFold

Q3UKJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000030117
AA Change: T183A

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

SMART Domains

Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: T183A

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

0.0585

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,596 (GRCm39)	V675D	possibly damaging	Het
Adamts16	T	C	13: 70,901,345 (GRCm39)	T911A	probably benign	Het
Adgra1	T	C	7: 139,427,619 (GRCm39)	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Aff1	T	A	5: 103,902,572 (GRCm39)	M1K	probably null	Het
AI429214	C	T	8: 37,461,071 (GRCm39)	S73L	probably benign	Het
Apc	C	A	18: 34,402,312 (GRCm39)		probably benign	Het
Apcs	T	C	1: 172,722,130 (GRCm39)	Y72C	probably damaging	Het
Arid4a	T	C	12: 71,108,299 (GRCm39)		probably benign	Het
Armcx4	C	A	X: 133,591,774 (GRCm39)	Q561K	probably benign	Het
Atp5po	C	T	16: 91,725,794 (GRCm39)	R64H	probably damaging	Het
Bank1	G	A	3: 135,953,534 (GRCm39)		probably benign	Het
Ccdc150	A	G	1: 54,395,932 (GRCm39)	D805G	probably benign	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Dnah1	A	T	14: 30,991,774 (GRCm39)	M3076K	possibly damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Egfem1	C	T	3: 29,637,170 (GRCm39)	T202I	probably damaging	Het
Fam120b	T	A	17: 15,651,897 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,881,416 (GRCm39)	T1263A	possibly damaging	Het
Gm6802	C	A	12: 19,540,621 (GRCm39)		noncoding transcript	Het
Golga2	C	A	2: 32,192,954 (GRCm39)	A424E	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Grik5	T	C	7: 24,762,397 (GRCm39)	D198G	probably benign	Het
Hcrtr2	A	G	9: 76,140,290 (GRCm39)	F333L	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Htr1b	A	C	9: 81,514,094 (GRCm39)	V171G	probably benign	Het
Kalrn	G	T	16: 34,032,642 (GRCm39)	D1117E	probably benign	Het
Kcp	T	C	6: 29,482,845 (GRCm39)	N1408S	possibly damaging	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Klra17	T	A	6: 129,851,809 (GRCm39)	N21I	probably damaging	Het
Lrrc8d	A	T	5: 105,974,572 (GRCm39)		noncoding transcript	Het
Mast2	C	G	4: 116,168,107 (GRCm39)	E881Q	possibly damaging	Het
Mcm6	T	C	1: 128,279,322 (GRCm39)	T155A	probably benign	Het
Mslnl	T	C	17: 25,963,491 (GRCm39)	F326L	probably benign	Het
Nlrp4c	A	G	7: 6,095,569 (GRCm39)	K816E	possibly damaging	Het
Or10g1	T	A	14: 52,647,818 (GRCm39)	R170S	possibly damaging	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5p69	A	T	7: 107,967,551 (GRCm39)	I285F	possibly damaging	Het
Or8k3	T	C	2: 86,058,986 (GRCm39)	S110G	probably benign	Het
Otoa	A	G	7: 120,721,266 (GRCm39)	Q427R	probably damaging	Het
Pcdhb6	A	G	18: 37,468,945 (GRCm39)	E622G	probably damaging	Het
Pdzd8	A	G	19: 59,333,845 (GRCm39)	Y59H	probably damaging	Het
Psmc3	A	C	2: 90,886,263 (GRCm39)	D159A	probably damaging	Het
Ripk4	T	C	16: 97,545,157 (GRCm39)	T497A	probably benign	Het
Rpn2	C	A	2: 157,132,572 (GRCm39)	A108E	possibly damaging	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Slc16a4	G	A	3: 107,208,188 (GRCm39)	E233K	probably benign	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Styxl1	T	C	5: 135,794,618 (GRCm39)	Y83C	probably damaging	Het
Sypl2	C	T	3: 108,124,045 (GRCm39)	V166I	possibly damaging	Het
Tal2	A	G	4: 53,785,843 (GRCm39)	N8S	probably damaging	Het
Tenm4	T	C	7: 96,501,737 (GRCm39)	Y1314H	probably damaging	Het
Ttn	A	C	2: 76,772,749 (GRCm39)	N2415K	possibly damaging	Het
Usp53	T	C	3: 122,743,507 (GRCm39)		probably null	Het
Vmn2r65	T	C	7: 84,595,896 (GRCm39)	I263V	probably benign	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
R3157:Smu1	UTSW	4	40,754,529 (GRCm39)	missense	possibly damaging	0.82
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
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'- AGAGCTCTCGTTCCTGGAAC -3'
(R):5'- CCCACACTGAACATAGATTGTG -3'

Sequencing Primer
(F):5'- TGGAACCCAAGCTCCTAAGGTAG -3'
(R):5'- CCACACTGAACATAGATTGTGTTTGG -3'

Posted On

2015-02-18