Mutagenetix > Incidental Mutation

Incidental Mutation 'R1725:Simc1'

198096

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

039757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1725 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54503779-54551290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54526406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 856 (S856P)

Ref Sequence

ENSEMBL: ENSMUSP00000113676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118072] [ENSMUST00000121401] [ENSMUST00000138869] [ENSMUST00000159721]

AlphaFold

E9Q6E9

Predicted Effect

probably benign
Transcript: ENSMUST00000118072

SMART Domains

Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183

Domain	Start	End	E-Value	Type
low complexity region	11	34	N/A	INTRINSIC
low complexity region	167	179	N/A	INTRINSIC
low complexity region	378	392	N/A	INTRINSIC
low complexity region	425	443	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121401
AA Change: S856P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: S856P

Domain	Start	End	E-Value	Type
low complexity region	11	34	N/A	INTRINSIC
low complexity region	173	189	N/A	INTRINSIC
low complexity region	222	234	N/A	INTRINSIC
low complexity region	249	263	N/A	INTRINSIC
internal_repeat_1	268	491	3.21e-17	PROSPERO
internal_repeat_1	579	832	3.21e-17	PROSPERO
low complexity region	852	868	N/A	INTRINSIC
low complexity region	1068	1080	N/A	INTRINSIC
low complexity region	1279	1293	N/A	INTRINSIC
low complexity region	1326	1344	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123852

Predicted Effect

probably benign
Transcript: ENSMUST00000138869

SMART Domains

Protein: ENSMUSP00000124474
Gene: ENSMUSG00000043183

Domain	Start	End	E-Value	Type
low complexity region	11	34	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150011

Predicted Effect

probably benign
Transcript: ENSMUST00000159721

SMART Domains

Protein: ENSMUSP00000124921
Gene: ENSMUSG00000043183

Domain	Start	End	E-Value	Type
low complexity region	11	34	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	T	G	19: 58,792,762	K10T	probably benign	Het
2310079G19Rik	A	T	16: 88,627,275	F109L	probably benign	Het
Aacs	T	C	5: 125,482,935		probably null	Het
Abcc6	C	A	7: 45,992,357	D866Y	possibly damaging	Het
Acox3	T	C	5: 35,592,172	Y214H	probably benign	Het
Acss2	A	G	2: 155,556,844	T404A	possibly damaging	Het
Adgrb3	T	A	1: 25,826,300	E154V	probably damaging	Het
Akap12	G	A	10: 4,353,942	V251M	probably damaging	Het
Ambp	A	T	4: 63,144,276	M242K	possibly damaging	Het
Angptl7	T	G	4: 148,500,012	Y93S	probably damaging	Het
Apof	A	G	10: 128,269,811		probably benign	Het
Arv1	T	C	8: 124,728,452	F135L	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Cacna1s	C	T	1: 136,098,623	T1116I	probably damaging	Het
Ccdc91	A	G	6: 147,592,043	E311G	unknown	Het
Cenpf	T	C	1: 189,680,479	T196A	probably damaging	Het
Chd8	A	T	14: 52,232,573	S527T	probably benign	Het
Csmd3	A	C	15: 47,596,807	N3529K	probably damaging	Het
Csnk2a1	T	C	2: 152,257,972	V116A	probably damaging	Het
Dhx36	T	G	3: 62,506,939	M1L	probably benign	Het
Diaph3	A	G	14: 86,966,323		probably null	Het
Ephb2	G	A	4: 136,659,778	Q714*	probably null	Het
Eprs	T	A	1: 185,406,992	L858Q	probably damaging	Het
Espl1	G	T	15: 102,313,221	V982L	probably benign	Het
Eya2	A	G	2: 165,724,685	T219A	probably benign	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fbxl18	C	T	5: 142,886,703	R259H	probably damaging	Het
Gcc2	G	A	10: 58,304,115	R1629H	possibly damaging	Het
Gje1	G	A	10: 14,716,424	R205*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Kmt2d	T	C	15: 98,845,234		probably benign	Het
Krt6a	A	T	15: 101,692,557	M268K	probably damaging	Het
Loxhd1	T	A	18: 77,293,241	S85T	probably benign	Het
Loxl3	G	A	6: 83,035,593	V38I	probably benign	Het
Mill2	A	G	7: 18,840,068	D26G	probably benign	Het
Muc15	T	C	2: 110,731,246	L9S	probably damaging	Het
Nat8f4	G	A	6: 85,901,098	R148*	probably null	Het
Nav3	A	T	10: 109,823,590	V722E	probably damaging	Het
Nfkb1	C	A	3: 135,667,758	G10W	probably damaging	Het
Olfr1477	T	C	19: 13,502,519	Y59H	probably damaging	Het
Olfr16	C	T	1: 172,957,341	P182L	possibly damaging	Het
Olfr31	T	G	14: 14,328,977	Y289D	probably damaging	Het
Olfr705	A	T	7: 106,714,058	F208I	probably benign	Het
Pcdhb22	T	A	18: 37,520,188	C313S	probably benign	Het
Plin4	A	G	17: 56,106,473	L384P	probably damaging	Het
Pm20d1	T	C	1: 131,816,058	I487T	probably damaging	Het
Prex1	A	T	2: 166,601,736	D334E	probably damaging	Het
Psg28	A	T	7: 18,428,011	I189N	possibly damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Rae1	A	G	2: 173,006,961	I123M	possibly damaging	Het
Sh3glb2	C	A	2: 30,350,667	E129*	probably null	Het
Slc19a1	T	A	10: 77,041,838	M69K	probably benign	Het
Slc30a8	A	T	15: 52,333,604	I304F	possibly damaging	Het
Snx1	A	G	9: 66,098,329		probably null	Het
Stx18	G	A	5: 38,135,255	V234M	probably damaging	Het
Sulf2	T	C	2: 166,081,361	T615A	probably damaging	Het
Sult3a2	T	A	10: 33,779,709	K91N	probably benign	Het
Tet1	A	G	10: 62,814,477	S22P	probably damaging	Het
Tmc3	T	C	7: 83,604,732	V362A	probably damaging	Het
Trim16	A	C	11: 62,820,505	M1L	possibly damaging	Het
Trp53bp1	C	T	2: 121,252,000	V10I	possibly damaging	Het
Ttc12	T	G	9: 49,458,115	D235A	probably benign	Het
Ttn	T	C	2: 76,862,383	R452G	possibly damaging	Het
Ugt2b38	A	T	5: 87,411,871	H387Q	probably damaging	Het
Usp48	T	A	4: 137,633,422	L20*	probably null	Het
Utrn	T	C	10: 12,663,519	D1918G	probably damaging	Het
Vmn1r158	A	G	7: 22,790,647	S46P	probably benign	Het
Vmn2r97	T	A	17: 18,929,135	W262R	probably benign	Het
Vps13d	A	T	4: 145,143,260	S1917T	possibly damaging	Het
Vsx1	T	C	2: 150,686,200	N158D	probably benign	Het
Vwf	G	A	6: 125,646,282	V1781I	probably benign	Het
Wrap73	T	C	4: 154,148,752	Y128H	possibly damaging	Het
Zfp472	A	G	17: 32,977,337	K129E	possibly damaging	Het
Zscan18	A	T	7: 12,770,857	L611Q	probably damaging	Het

Other mutations in Simc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Simc1	APN	13	54525176	missense	probably benign	0.27
IGL00813:Simc1	APN	13	54546986	missense	probably damaging	0.98
IGL01326:Simc1	APN	13	54524660	missense	probably benign	0.00
IGL01587:Simc1	APN	13	54539704	missense	probably damaging	1.00
IGL02887:Simc1	APN	13	54525258	missense	probably benign	0.04
IGL02977:Simc1	APN	13	54526307	missense	probably benign	0.15
IGL03051:Simc1	APN	13	54526223	missense	probably benign	0.15
IGL03065:Simc1	APN	13	54537212	missense	probably damaging	1.00
IGL03244:Simc1	APN	13	54550629	missense	probably benign	0.06
R0158:Simc1	UTSW	13	54524717	missense	probably benign	0.00
R0218:Simc1	UTSW	13	54526604	missense	probably damaging	1.00
R0241:Simc1	UTSW	13	54550525	missense	probably damaging	1.00
R0241:Simc1	UTSW	13	54550525	missense	probably damaging	1.00
R0362:Simc1	UTSW	13	54528467	missense	probably damaging	1.00
R0464:Simc1	UTSW	13	54537100	nonsense	probably null
R0556:Simc1	UTSW	13	54525347	missense	probably benign	0.16
R0616:Simc1	UTSW	13	54547032	missense	probably benign	0.03
R0686:Simc1	UTSW	13	54525190	missense	probably benign	0.31
R0715:Simc1	UTSW	13	54525655	missense	possibly damaging	0.49
R0761:Simc1	UTSW	13	54526574	missense	probably damaging	1.00
R1335:Simc1	UTSW	13	54525265	intron	probably benign
R1344:Simc1	UTSW	13	54550479	missense	probably damaging	1.00
R1345:Simc1	UTSW	13	54525247	intron	probably benign
R1585:Simc1	UTSW	13	54525258	missense	probably benign	0.04
R1633:Simc1	UTSW	13	54525231	missense	probably benign	0.05
R1826:Simc1	UTSW	13	54524639	missense	probably benign	0.00
R1827:Simc1	UTSW	13	54524639	missense	probably benign	0.00
R1893:Simc1	UTSW	13	54539715	missense	probably damaging	0.99
R2012:Simc1	UTSW	13	54503888	missense	probably benign	0.05
R2088:Simc1	UTSW	13	54541534	missense	probably damaging	1.00
R2901:Simc1	UTSW	13	54541518	splice site	probably null
R2974:Simc1	UTSW	13	54550461	missense	probably damaging	1.00
R4238:Simc1	UTSW	13	54526260	nonsense	probably null
R4870:Simc1	UTSW	13	54539763	missense	probably null	0.73
R4959:Simc1	UTSW	13	54525318	missense	possibly damaging	0.49
R5104:Simc1	UTSW	13	54526362	missense	probably benign	0.15
R5217:Simc1	UTSW	13	54539896	unclassified	probably benign
R5319:Simc1	UTSW	13	54524982	missense	probably benign	0.00
R5635:Simc1	UTSW	13	54525404	missense	probably benign	0.00
R5660:Simc1	UTSW	13	54547089	missense	probably benign	0.01
R5900:Simc1	UTSW	13	54547024	missense	probably damaging	1.00
R5963:Simc1	UTSW	13	54525819	missense	possibly damaging	0.84
R6036:Simc1	UTSW	13	54524621	missense	probably benign	0.01
R6036:Simc1	UTSW	13	54524621	missense	probably benign	0.01
R6089:Simc1	UTSW	13	54528490	missense	probably benign	0.30
R6271:Simc1	UTSW	13	54539724	missense	probably damaging	1.00
R6322:Simc1	UTSW	13	54550569	missense	probably damaging	1.00
R6364:Simc1	UTSW	13	54524600	nonsense	probably null
R6434:Simc1	UTSW	13	54526664	missense	probably benign	0.22
R6627:Simc1	UTSW	13	54547074	missense	probably damaging	1.00
R6758:Simc1	UTSW	13	54525548	missense	possibly damaging	0.57
R7236:Simc1	UTSW	13	54524796	missense	probably benign	0.03
R7297:Simc1	UTSW	13	54525235	intron	probably benign
R7359:Simc1	UTSW	13	54503918	missense	unknown
R7362:Simc1	UTSW	13	54539704	missense	probably damaging	1.00
R7490:Simc1	UTSW	13	54524349	missense	possibly damaging	0.84
R7792:Simc1	UTSW	13	54547330	missense	probably damaging	1.00
R7855:Simc1	UTSW	13	54524832	missense	probably benign	0.03
R7869:Simc1	UTSW	13	54503900	missense	unknown
R8293:Simc1	UTSW	13	54526546	missense	probably damaging	0.98
R8330:Simc1	UTSW	13	54525364	intron	probably benign
R8692:Simc1	UTSW	13	54525380	missense	probably benign	0.16
R9087:Simc1	UTSW	13	54524334	missense	probably benign	0.03
R9449:Simc1	UTSW	13	54526379	missense	probably benign	0.15
R9732:Simc1	UTSW	13	54525364	intron	probably benign
X0023:Simc1	UTSW	13	54541531	missense	probably damaging	0.98
Z1177:Simc1	UTSW	13	54524445	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAAGTGTGTTACCGGCATCAGGAG -3'
(R):5'- TGTCCTTGTATCTGAGCAGACCCAG -3'

Sequencing Primer
(F):5'- AGTCACCTAGCGGTACATTG -3'
(R):5'- TGAGCAGACCCAGGGTTG -3'

Posted On

2014-05-23