Mutagenetix > Incidental Mutations

Incidental Mutation 'R0218:Simc1'

33683

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

038467-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54503779-54551290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54526604 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 922 (Y922H)

Ref Sequence

ENSEMBL: ENSMUSP00000113676 (fasta)

Gene Model

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

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: Y922H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: Y922H

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

Meta Mutation Damage Score

0.1770

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,116,437	Y10*	probably null	Het
Adgrv1	C	T	13: 81,106,898		probably null	Het
Ccdc110	A	G	8: 45,934,724		probably benign	Het
Cd200r1	T	A	16: 44,788,743		probably benign	Het
Cdkl1	A	T	12: 69,790,035	D40E	probably benign	Het
Cdx1	A	G	18: 61,020,364		probably benign	Het
Cenpp	T	A	13: 49,647,632	K103N	possibly damaging	Het
Cep162	A	G	9: 87,211,809	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,353,460	L181*	probably null	Het
Ciapin1	G	T	8: 94,828,310	Q173K	probably damaging	Het
Dgcr2	A	G	16: 17,849,786	C270R	probably damaging	Het
Dlc1	A	G	8: 36,850,229	S431P	probably benign	Het
Efcab12	T	C	6: 115,814,650		probably benign	Het
Ehbp1	A	T	11: 22,231,992		probably benign	Het
Enpp3	A	T	10: 24,776,869	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,740,764	T88A	probably benign	Het
Fancl	A	G	11: 26,471,337	K364E	probably benign	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Galc	A	G	12: 98,222,647	Y402H	probably damaging	Het
Gga2	T	C	7: 121,998,900	N324D	possibly damaging	Het
Gm13103	A	G	4: 143,851,831	I220M	probably damaging	Het
Gm5346	T	G	8: 43,626,440	Q249P	probably benign	Het
Gpr1	T	A	1: 63,183,531	N182Y	probably benign	Het
Hc	G	T	2: 35,028,074	F732L	probably damaging	Het
Heca	T	C	10: 17,915,715	M198V	probably benign	Het
Herc6	C	A	6: 57,619,601	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,882,624	M425K	probably benign	Het
Mael	C	T	1: 166,238,590	G26D	probably damaging	Het
Map1a	A	G	2: 121,305,425	T2241A	probably benign	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mdga2	A	G	12: 66,655,120	S505P	probably damaging	Het
Mdm1	A	G	10: 118,156,878		probably benign	Het
Mex3b	A	T	7: 82,869,104	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 47,309,406	E279G	possibly damaging	Het
Nfe2l1	A	T	11: 96,827,613	L32Q	probably damaging	Het
Npas1	C	T	7: 16,461,893	V285I	probably benign	Het
Olfr1499	T	C	19: 13,814,978	N204S	probably benign	Het
Olfr187	C	T	16: 59,036,093	V215I	probably benign	Het
Olfr513	T	A	7: 108,755,574	C239*	probably null	Het
Osr1	A	G	12: 9,579,639	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,523,976	C265S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Slc25a39	A	G	11: 102,406,230	F56L	probably benign	Het
Smg8	A	G	11: 87,086,122	L211P	probably damaging	Het
Sncaip	A	G	18: 52,907,328	S805G	probably benign	Het
Sra1	T	C	18: 36,676,609		probably benign	Het
Tas2r104	T	G	6: 131,685,092	D218A	probably damaging	Het
Unc45b	A	G	11: 82,911,860		probably benign	Het
Unc79	A	G	12: 103,108,781		probably null	Het
Washc2	T	A	6: 116,248,046	L785*	probably null	Het
Zfp30	A	G	7: 29,793,638	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,912,628	T334A	probably benign	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
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
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'- TTCCCCGAATGATGTGCAGAATCG -3'
(R):5'- TTTGGCCCATTCTCTGGCATGGAC -3'

Sequencing Primer
(F):5'- AAGTTGCTCTGCTAACCCAC -3'
(R):5'- ATTCTCTGGCATGGACTCTAATC -3'

Posted On

2013-05-09