Mutagenetix > Incidental Mutation

Incidental Mutation 'R4238:Simc1'

321228

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

041055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54651592-54699103 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to G at 54674073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 807 (S807*)

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 null
Transcript: ENSMUST00000121401
AA Change: S807*

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: S807*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,603,478 (GRCm39)	P93S	probably benign	Het
4930563M21Rik	T	C	9: 55,888,126 (GRCm39)	D397G	probably benign	Het
Aar2	A	G	2: 156,393,064 (GRCm39)	E151G	possibly damaging	Het
Cacna2d4	A	G	6: 119,217,669 (GRCm39)	D125G	probably null	Het
Cdc20	C	T	4: 118,290,257 (GRCm39)	R468Q	probably damaging	Het
Cers3	T	C	7: 66,423,424 (GRCm39)	F87S	probably damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Cndp1	G	T	18: 84,636,342 (GRCm39)	H391N	probably benign	Het
Cpz	T	C	5: 35,659,818 (GRCm39)	D609G	probably benign	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fam186a	T	C	15: 99,841,523 (GRCm39)	I1574V	probably benign	Het
Gm6871	G	T	7: 41,195,204 (GRCm39)	T511K	probably damaging	Het
Gpr158	G	T	2: 21,373,362 (GRCm39)	C99F	probably damaging	Het
Gtf2h1	C	T	7: 46,454,489 (GRCm39)	A157V	probably benign	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
Igkv12-44	A	G	6: 69,791,868 (GRCm39)	S32P	probably benign	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Lin54	G	A	5: 100,623,603 (GRCm39)	S78L	possibly damaging	Het
Lzts1	G	T	8: 69,588,579 (GRCm39)	A459E	possibly damaging	Het
Mlf1	G	A	3: 67,291,910 (GRCm39)	S25N	probably benign	Het
Mrgprx2	C	A	7: 48,132,738 (GRCm39)	V27L	probably benign	Het
Myof	T	A	19: 37,911,456 (GRCm39)	R1505*	probably null	Het
Or4k15	T	C	14: 50,364,889 (GRCm39)	V285A	probably benign	Het
Otud7a	A	G	7: 63,300,702 (GRCm39)	D47G	probably damaging	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,434 (GRCm39)	V111D	probably damaging	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Snrpa	A	T	7: 26,892,293 (GRCm39)		probably null	Het
Sval2	T	A	6: 41,837,283 (GRCm39)	L4H	probably damaging	Het
Tax1bp1	C	T	6: 52,743,036 (GRCm39)	Q808*	probably null	Het
Tnfrsf11a	T	C	1: 105,754,962 (GRCm39)	Y345H	probably damaging	Het
Trpa1	A	G	1: 14,954,340 (GRCm39)	L853P	probably damaging	Het
Trpm3	A	G	19: 22,956,002 (GRCm39)	R1155G	probably damaging	Het
Ube4a	T	C	9: 44,851,297 (GRCm39)	E739G	probably damaging	Het
Zfp433	A	C	10: 81,556,046 (GRCm39)	T182P	probably damaging	Het

Other mutations in Simc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Simc1	APN	13	54,672,989 (GRCm39)	missense	probably benign	0.27
IGL00813:Simc1	APN	13	54,694,799 (GRCm39)	missense	probably damaging	0.98
IGL01326:Simc1	APN	13	54,672,473 (GRCm39)	missense	probably benign	0.00
IGL01587:Simc1	APN	13	54,687,517 (GRCm39)	missense	probably damaging	1.00
IGL02887:Simc1	APN	13	54,673,071 (GRCm39)	missense	probably benign	0.04
IGL02977:Simc1	APN	13	54,674,120 (GRCm39)	missense	probably benign	0.15
IGL03051:Simc1	APN	13	54,674,036 (GRCm39)	missense	probably benign	0.15
IGL03065:Simc1	APN	13	54,685,025 (GRCm39)	missense	probably damaging	1.00
IGL03244:Simc1	APN	13	54,698,442 (GRCm39)	missense	probably benign	0.06
R0158:Simc1	UTSW	13	54,672,530 (GRCm39)	missense	probably benign	0.00
R0218:Simc1	UTSW	13	54,674,417 (GRCm39)	missense	probably damaging	1.00
R0241:Simc1	UTSW	13	54,698,338 (GRCm39)	missense	probably damaging	1.00
R0241:Simc1	UTSW	13	54,698,338 (GRCm39)	missense	probably damaging	1.00
R0362:Simc1	UTSW	13	54,676,280 (GRCm39)	missense	probably damaging	1.00
R0464:Simc1	UTSW	13	54,684,913 (GRCm39)	nonsense	probably null
R0556:Simc1	UTSW	13	54,673,160 (GRCm39)	missense	probably benign	0.16
R0616:Simc1	UTSW	13	54,694,845 (GRCm39)	missense	probably benign	0.03
R0686:Simc1	UTSW	13	54,673,003 (GRCm39)	missense	probably benign	0.31
R0715:Simc1	UTSW	13	54,673,468 (GRCm39)	missense	possibly damaging	0.49
R0761:Simc1	UTSW	13	54,674,387 (GRCm39)	missense	probably damaging	1.00
R1335:Simc1	UTSW	13	54,673,078 (GRCm39)	intron	probably benign
R1344:Simc1	UTSW	13	54,698,292 (GRCm39)	missense	probably damaging	1.00
R1345:Simc1	UTSW	13	54,673,060 (GRCm39)	intron	probably benign
R1585:Simc1	UTSW	13	54,673,071 (GRCm39)	missense	probably benign	0.04
R1633:Simc1	UTSW	13	54,673,044 (GRCm39)	missense	probably benign	0.05
R1725:Simc1	UTSW	13	54,674,219 (GRCm39)	missense	probably damaging	0.99
R1826:Simc1	UTSW	13	54,672,452 (GRCm39)	missense	probably benign	0.00
R1827:Simc1	UTSW	13	54,672,452 (GRCm39)	missense	probably benign	0.00
R1893:Simc1	UTSW	13	54,687,528 (GRCm39)	missense	probably damaging	0.99
R2012:Simc1	UTSW	13	54,651,701 (GRCm39)	missense	probably benign	0.05
R2088:Simc1	UTSW	13	54,689,347 (GRCm39)	missense	probably damaging	1.00
R2901:Simc1	UTSW	13	54,689,331 (GRCm39)	splice site	probably null
R2974:Simc1	UTSW	13	54,698,274 (GRCm39)	missense	probably damaging	1.00
R4870:Simc1	UTSW	13	54,687,576 (GRCm39)	missense	probably null	0.73
R4959:Simc1	UTSW	13	54,673,131 (GRCm39)	missense	possibly damaging	0.49
R5104:Simc1	UTSW	13	54,674,175 (GRCm39)	missense	probably benign	0.15
R5217:Simc1	UTSW	13	54,687,709 (GRCm39)	unclassified	probably benign
R5319:Simc1	UTSW	13	54,672,795 (GRCm39)	missense	probably benign	0.00
R5635:Simc1	UTSW	13	54,673,217 (GRCm39)	missense	probably benign	0.00
R5660:Simc1	UTSW	13	54,694,902 (GRCm39)	missense	probably benign	0.01
R5900:Simc1	UTSW	13	54,694,837 (GRCm39)	missense	probably damaging	1.00
R5963:Simc1	UTSW	13	54,673,632 (GRCm39)	missense	possibly damaging	0.84
R6036:Simc1	UTSW	13	54,672,434 (GRCm39)	missense	probably benign	0.01
R6036:Simc1	UTSW	13	54,672,434 (GRCm39)	missense	probably benign	0.01
R6089:Simc1	UTSW	13	54,676,303 (GRCm39)	missense	probably benign	0.30
R6271:Simc1	UTSW	13	54,687,537 (GRCm39)	missense	probably damaging	1.00
R6322:Simc1	UTSW	13	54,698,382 (GRCm39)	missense	probably damaging	1.00
R6364:Simc1	UTSW	13	54,672,413 (GRCm39)	nonsense	probably null
R6434:Simc1	UTSW	13	54,674,477 (GRCm39)	missense	probably benign	0.22
R6627:Simc1	UTSW	13	54,694,887 (GRCm39)	missense	probably damaging	1.00
R6758:Simc1	UTSW	13	54,673,361 (GRCm39)	missense	possibly damaging	0.57
R7236:Simc1	UTSW	13	54,672,609 (GRCm39)	missense	probably benign	0.03
R7297:Simc1	UTSW	13	54,673,048 (GRCm39)	intron	probably benign
R7359:Simc1	UTSW	13	54,651,731 (GRCm39)	missense	unknown
R7362:Simc1	UTSW	13	54,687,517 (GRCm39)	missense	probably damaging	1.00
R7490:Simc1	UTSW	13	54,672,162 (GRCm39)	missense	possibly damaging	0.84
R7792:Simc1	UTSW	13	54,695,143 (GRCm39)	missense	probably damaging	1.00
R7855:Simc1	UTSW	13	54,672,645 (GRCm39)	missense	probably benign	0.03
R7869:Simc1	UTSW	13	54,651,713 (GRCm39)	missense	unknown
R8293:Simc1	UTSW	13	54,674,359 (GRCm39)	missense	probably damaging	0.98
R8330:Simc1	UTSW	13	54,673,177 (GRCm39)	intron	probably benign
R8692:Simc1	UTSW	13	54,673,193 (GRCm39)	missense	probably benign	0.16
R9087:Simc1	UTSW	13	54,672,147 (GRCm39)	missense	probably benign	0.03
R9449:Simc1	UTSW	13	54,674,192 (GRCm39)	missense	probably benign	0.15
R9732:Simc1	UTSW	13	54,673,177 (GRCm39)	intron	probably benign
X0023:Simc1	UTSW	13	54,689,344 (GRCm39)	missense	probably damaging	0.98
Z1177:Simc1	UTSW	13	54,672,258 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAGGATGCAGTCACCAGGAG -3'
(R):5'- TGTGGGTTAGCAGAGCAAC -3'

Sequencing Primer
(F):5'- CATCATCTGGAGGTGTGATACAGTC -3'
(R):5'- TGGGTTAGCAGAGCAACTTGAAG -3'

Posted On

2015-06-12