Mutagenetix > Incidental Mutation

Incidental Mutation 'R5106:Smu1'

392615

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

042694-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40736542-40757923 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40743104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 345 (F345I)

Ref Sequence

ENSEMBL: ENSMUSP00000030117 (fasta)

Gene Model

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

AlphaFold

Q3UKJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030117
AA Change: F345I

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: F345I

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

Meta Mutation Damage Score

0.6211

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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
C1qtnf2	G	A	11: 43,376,880 (GRCm39)	R84Q	possibly damaging	Het
Carmil2	T	A	8: 106,420,638 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,416,005 (GRCm39)	C107S	probably benign	Het
Cideb	T	C	14: 55,991,982 (GRCm39)	M191V	probably benign	Het
Cope	C	A	8: 70,763,097 (GRCm39)	R213S	possibly damaging	Het
Ctcf	T	C	8: 106,408,130 (GRCm39)		probably benign	Het
Daam2	T	C	17: 49,783,489 (GRCm39)	Y647C	probably damaging	Het
Dlg2	T	C	7: 92,091,894 (GRCm39)	Y920H	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fdps	C	A	3: 89,006,710 (GRCm39)	R127L	probably damaging	Het
G6pd2	C	T	5: 61,967,695 (GRCm39)	T490I	probably benign	Het
Gm6401	A	G	14: 41,787,463 (GRCm39)	M121T	probably damaging	Het
Gnl2	T	C	4: 124,947,329 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	A	G	17: 89,002,073 (GRCm39)	S310G	possibly damaging	Het
Igdcc4	T	C	9: 65,031,983 (GRCm39)	F500L	probably damaging	Het
Lgr4	A	T	2: 109,827,940 (GRCm39)	H207L	probably damaging	Het
Llcfc1	A	G	6: 41,662,310 (GRCm39)	M105V	probably benign	Het
Macroh2a1	A	G	13: 56,236,106 (GRCm39)	V213A	possibly damaging	Het
Map2k3	A	G	11: 60,832,708 (GRCm39)	K18E	probably damaging	Het
Mccc1	T	A	3: 36,026,713 (GRCm39)	D528V	probably benign	Het
Nedd4l	C	T	18: 65,326,376 (GRCm39)	T568M	probably damaging	Het
Nr3c1	A	C	18: 39,619,654 (GRCm39)	I211S	possibly damaging	Het
Nudt5	C	T	2: 5,859,640 (GRCm39)		probably benign	Het
Or2ag20	T	A	7: 106,464,595 (GRCm39)	M136K	probably damaging	Het
Or5d46	T	C	2: 88,170,454 (GRCm39)	Y182H	probably benign	Het
Or6c202	T	C	10: 128,996,106 (GRCm39)	Y249C	probably damaging	Het
Or9k2b	A	T	10: 130,016,177 (GRCm39)	S191T	probably benign	Het
Pcid2	A	T	8: 13,129,648 (GRCm39)	F326I	probably damaging	Het
Pcnt	A	T	10: 76,237,278 (GRCm39)	I1336N	probably damaging	Het
Pomk	T	C	8: 26,476,404 (GRCm39)	D50G	probably benign	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Ptprz1	A	G	6: 23,000,027 (GRCm39)	T706A	probably benign	Het
Rad54l	G	A	4: 115,956,961 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,572,459 (GRCm39)	D36G	probably damaging	Het
Rgs7	A	G	1: 174,904,416 (GRCm39)	S166P	possibly damaging	Het
Rnf183	C	G	4: 62,346,465 (GRCm39)	R111P	probably damaging	Het
Rp1l1	A	T	14: 64,265,395 (GRCm39)	D327V	probably damaging	Het
Rpl3l	A	G	17: 24,951,411 (GRCm39)	Y156C	probably damaging	Het
Slc25a54	G	T	3: 109,020,180 (GRCm39)	C398F	probably benign	Het
Slc39a2	A	G	14: 52,132,988 (GRCm39)	*310W	probably null	Het
Slit3	T	C	11: 35,503,194 (GRCm39)	C464R	probably damaging	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stxbp3	T	C	3: 108,702,243 (GRCm39)	Y521C	probably benign	Het
Tenm4	T	C	7: 96,492,356 (GRCm39)	S1061P	probably damaging	Het
Thoc5	T	C	11: 4,860,630 (GRCm39)	S103P	probably damaging	Het
Tmem221	A	G	8: 72,008,522 (GRCm39)	F173L	probably benign	Het
Trit1	T	C	4: 122,948,106 (GRCm39)		probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,395 (GRCm39)		probably null	Het
Vmn2r38	C	A	7: 9,078,169 (GRCm39)	V738L	possibly damaging	Het
Zfp160	T	A	17: 21,247,023 (GRCm39)	H524Q	probably damaging	Het
Zfp791	T	A	8: 85,837,259 (GRCm39)	K202*	probably null	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het
Zkscan7	T	C	9: 122,725,198 (GRCm39)		probably benign	Het
Zwilch	A	C	9: 64,060,866 (GRCm39)	F329V	probably 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
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
R3411:Smu1	UTSW	4	40,752,008 (GRCm39)	missense	probably benign
R4581:Smu1	UTSW	4	40,737,401 (GRCm39)	splice site	probably null
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'- AAGGAACCGTGGTCTCAGAC -3'
(R):5'- TTCTCGAAGTTTCTTACTGTGCAG -3'

Sequencing Primer
(F):5'- TGGTCTCAGACTCACACGCTG -3'
(R):5'- GTTTCTTACTGTGCAGTTTATATTGG -3'

Posted On

2016-06-15