Mutagenetix > Incidental Mutation

Incidental Mutation 'R9537:Smu1'

719730

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

2610203K23Rik, 2600001O03Rik, SMU-1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R9537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40736542-40757923 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40755671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 65 (S65P)

Ref Sequence

ENSEMBL: ENSMUSP00000030117 (fasta)

Gene Model

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

AlphaFold

Q3UKJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000030117
AA Change: S65P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000030117
Gene: ENSMUSG00000028409
AA Change: S65P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,153,162	K341E	possibly damaging	Het
Adgra3	A	G	5: 49,960,865	Y1114H	possibly damaging	Het
Atp5j	A	G	16: 84,828,470	Y82H	probably damaging	Het
Bcl2a1d	T	G	9: 88,731,473	I83L	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bglap3	T	C	3: 88,368,832	D71G	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Chmp2b	T	C	16: 65,551,046	K15E	probably benign	Het
Chrm3	A	T	13: 9,877,426	W525R	probably damaging	Het
Col7a1	A	T	9: 108,955,352	K143*	probably null	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dnaic1	A	G	4: 41,629,790		probably null	Het
Dnhd1	G	A	7: 105,695,533	G2028D	probably damaging	Het
Esyt3	C	T	9: 99,317,239	R773Q	probably damaging	Het
Ffar1	T	C	7: 30,860,600	T291A	probably benign	Het
Gm5767	G	T	16: 8,683,313	C11F		Het
Golga2	G	T	2: 32,288,301		probably benign	Het
Hapln2	T	A	3: 88,024,473		probably null	Het
Ing1	T	C	8: 11,561,889	L203P	probably benign	Het
Med1	T	C	11: 98,171,760	T171A	possibly damaging	Het
Mib2	A	T	4: 155,657,495	L387H	probably damaging	Het
Mier1	A	G	4: 103,162,561	N494S	probably benign	Het
Myof	A	G	19: 37,907,606	L1847P	probably damaging	Het
Ndst3	A	T	3: 123,671,513	V270D		Het
Nup160	T	C	2: 90,729,744	L1271S	possibly damaging	Het
Osgep	A	T	14: 50,924,662		probably null	Het
Ptgfr	G	T	3: 151,835,808	T21N	possibly damaging	Het
Ptgs1	T	C	2: 36,230,727	S23P	unknown	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Spef2	T	C	15: 9,601,799	Y1459C	unknown	Het
Spen	A	G	4: 141,471,704	V3204A	probably benign	Het
Spen	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	4: 141,516,845		probably benign	Het
Timm44	G	A	8: 4,260,576	T392I	possibly damaging	Het
Tnc	A	T	4: 63,966,584	I1818N	probably damaging	Het
Trpm1	G	T	7: 64,153,868		probably benign	Het
Ttc14	A	G	3: 33,803,198	Y231C	probably damaging	Het
Ube3b	A	G	5: 114,387,184	R23G	probably damaging	Het
Usp40	T	C	1: 88,007,395	Y10C	probably benign	Het
Vmn2r107	C	A	17: 20,374,887	S567R	probably benign	Het
Zfp112	T	C	7: 24,127,087	Y831H	probably damaging	Het
Zfy2	T	A	Y: 2,108,596	T355S		Het

Other mutations in Smu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02992:Smu1	APN	4	40739550	missense	probably damaging	0.97
IGL03271:Smu1	APN	4	40738408	missense	probably benign	0.11
IGL03329:Smu1	APN	4	40739568	missense	possibly damaging	0.81
PIT4585001:Smu1	UTSW	4	40739623	missense	probably benign
R0172:Smu1	UTSW	4	40738439	missense	probably benign	0.00
R1109:Smu1	UTSW	4	40755722	missense	probably benign	0.12
R1552:Smu1	UTSW	4	40748570	missense	probably damaging	1.00
R1799:Smu1	UTSW	4	40745537	missense	probably damaging	1.00
R2093:Smu1	UTSW	4	40738438	missense	probably benign	0.12
R2143:Smu1	UTSW	4	40744073	missense	probably damaging	0.99
R3082:Smu1	UTSW	4	40745567	missense	probably damaging	1.00
R3083:Smu1	UTSW	4	40745567	missense	probably damaging	1.00
R3113:Smu1	UTSW	4	40748658	missense	probably benign	0.03
R3157:Smu1	UTSW	4	40754529	missense	possibly damaging	0.82
R3158:Smu1	UTSW	4	40754529	missense	possibly damaging	0.82
R3159:Smu1	UTSW	4	40754529	missense	possibly damaging	0.82
R3409:Smu1	UTSW	4	40752008	missense	probably benign
R3411:Smu1	UTSW	4	40752008	missense	probably benign
R4581:Smu1	UTSW	4	40737401	splice site	probably null
R5106:Smu1	UTSW	4	40743104	missense	possibly damaging	0.82
R7747:Smu1	UTSW	4	40748600	missense	probably benign	0.44
R9029:Smu1	UTSW	4	40738361	missense	probably damaging	1.00
R9069:Smu1	UTSW	4	40745558	missense	probably damaging	1.00
R9797:Smu1	UTSW	4	40739538	missense	possibly damaging	0.69

Predicted Primers

Posted On

2022-07-18