Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03051:Simc1'

409071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL03051

Quality Score

Status

Chromosome

Chromosomal Location

54503779-54551290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54526223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 795 (S795P)

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 benign
Transcript: ENSMUST00000121401
AA Change: S795P

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: S795P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,987,301		probably benign	Het
Abhd14a	A	T	9: 106,443,929	F76I	possibly damaging	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akap13	T	A	7: 75,610,485	C149*	probably null	Het
Appbp2	A	T	11: 85,191,739	D555E	possibly damaging	Het
Arhgap25	T	C	6: 87,495,914	Q87R	probably null	Het
Baz1b	T	A	5: 135,217,225	N509K	probably benign	Het
Ces5a	C	A	8: 93,528,598	G156C	probably damaging	Het
Chtf18	G	A	17: 25,720,964	R723W	probably damaging	Het
Clec4e	A	G	6: 123,289,733	S6P	probably benign	Het
Dennd4a	A	G	9: 64,862,414	I468V	probably damaging	Het
Epb41l4a	A	T	18: 33,874,772	Y233N	probably damaging	Het
Fam210b	C	T	2: 172,352,692	H155Y	probably benign	Het
Frmd4b	A	T	6: 97,295,982	C770*	probably null	Het
Gpa33	A	G	1: 166,165,221	H301R	probably benign	Het
Gpr39	T	A	1: 125,677,748	C138S	probably damaging	Het
Gtf2i	T	A	5: 134,242,914	K858*	probably null	Het
Ighv7-1	A	T	12: 113,896,956		probably benign	Het
Iglv1	T	C	16: 19,085,223	T49A	possibly damaging	Het
Kif17	A	C	4: 138,289,254	D416A	probably damaging	Het
Mib2	T	C	4: 155,657,290	T431A	probably damaging	Het
Mpz	G	A	1: 171,158,811	R98H	probably damaging	Het
Naa16	T	C	14: 79,369,082	E337G	probably benign	Het
Odam	G	A	5: 87,892,476		probably benign	Het
Olfr397	T	A	11: 73,965,034	L142H	probably benign	Het
Parp2	T	C	14: 50,819,348		probably benign	Het
Pcdh7	T	G	5: 58,129,073	S1164A	probably damaging	Het
Pkp4	G	T	2: 59,311,762	A470S	probably benign	Het
Plin4	A	T	17: 56,105,417	M538K	possibly damaging	Het
Prex2	T	C	1: 11,142,665	V624A	probably damaging	Het
Rps6ka5	A	C	12: 100,615,991		probably null	Het
Slc35b4	A	T	6: 34,160,471		probably null	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Syt14	T	C	1: 192,933,220	N486S	probably benign	Het
Trim59	T	C	3: 69,036,873	N378S	probably benign	Het
Wdr17	T	A	8: 54,651,314	D908V	probably damaging	Het
Wdr74	A	G	19: 8,739,511		probably benign	Het
Wisp1	T	A	15: 66,906,550	C73*	probably null	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
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
R1725:Simc1	UTSW	13	54526406	missense	probably damaging	0.99
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

Posted On

2016-08-02