Mutagenetix > Incidental Mutation

Incidental Mutation 'R6758:Simc1'

531114

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

044874-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54651592-54699103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54673361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 570 (P570S)

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

possibly damaging
Transcript: ENSMUST00000121401
AA Change: P570S

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: P570S

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	T	5: 90,411,172 (GRCm39)	D1374E	probably damaging	Het
Cd96	C	A	16: 45,938,367 (GRCm39)	V33L	possibly damaging	Het
Drd1	T	C	13: 54,207,308 (GRCm39)	E295G	probably benign	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm11595	C	A	11: 99,663,366 (GRCm39)	V105L	unknown	Het
Gm11595	A	T	11: 99,663,367 (GRCm39)	C104*	probably null	Het
Igsf3	T	C	3: 101,332,814 (GRCm39)	Y31H	probably damaging	Het
Ikzf2	A	T	1: 69,578,059 (GRCm39)	H483Q	probably damaging	Het
Itgbl1	A	G	14: 124,094,901 (GRCm39)	K309E	probably benign	Het
Myt1l	T	G	12: 29,892,599 (GRCm39)	Y79D	possibly damaging	Het
Nid2	T	A	14: 19,852,551 (GRCm39)	S1086R	probably damaging	Het
Or1o1	A	G	17: 37,716,586 (GRCm39)	D49G	probably damaging	Het
Or5h24	T	C	16: 58,919,328 (GRCm39)	E9G	probably damaging	Het
Or6c65	T	C	10: 129,603,920 (GRCm39)	I185T	probably damaging	Het
Rorc	A	G	3: 94,294,825 (GRCm39)	N51S	possibly damaging	Het
Sanbr	T	C	11: 23,538,475 (GRCm39)		probably null	Het
Smn1	T	A	13: 100,268,946 (GRCm39)	M264K	possibly damaging	Het
Tiam2	A	G	17: 3,568,678 (GRCm39)	D1608G	probably benign	Het
Tll1	C	A	8: 64,494,439 (GRCm39)		probably null	Het
Trim15	A	G	17: 37,173,233 (GRCm39)	L284P	probably benign	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
R4238:Simc1	UTSW	13	54,674,073 (GRCm39)	nonsense	probably null
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
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'- ATGATGCAGTCACCAGGAGG -3'
(R):5'- GACTGTATCACATCTGATGATAGTGGC -3'

Sequencing Primer
(F):5'- CCAGGAGGTGTGATGCAGTC -3'
(R):5'- TGGCACACCTCCTGGTAACTG -3'

Posted On

2018-08-01