Mutagenetix > Incidental Mutation

Incidental Mutation 'R6627:Simc1'

524882

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

044749-MU

Accession Numbers

Essential gene?

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

Stock #

R6627 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54651592-54699103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54694887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 323 (L323V)

Ref Sequence

ENSEMBL: ENSMUSP00000112376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000118072] [ENSMUST00000121401] [ENSMUST00000153065]

AlphaFold

E9Q6E9

Predicted Effect

probably benign
Transcript: ENSMUST00000026989

SMART Domains

Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	15	303	5.8e-133	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118072
AA Change: L323V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
AA Change: L323V

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: L1224V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: L1224V

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: ENSMUST00000126506

Predicted Effect

probably benign
Transcript: ENSMUST00000153065

SMART Domains

Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	1	284	7e-147	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	T	C	18: 12,395,221 (GRCm39)	N224S	probably benign	Het
Ccdc162	A	G	10: 41,539,181 (GRCm39)	S396P	probably damaging	Het
Cd9	A	G	6: 125,439,375 (GRCm39)	L119P	possibly damaging	Het
Cdk17	A	C	10: 93,068,274 (GRCm39)	T311P	probably damaging	Het
Cep89	A	G	7: 35,127,172 (GRCm39)	D511G	possibly damaging	Het
Coq3	T	C	4: 21,908,607 (GRCm39)	V286A	possibly damaging	Het
Cyp2j13	G	A	4: 95,947,343 (GRCm39)	T236I	probably damaging	Het
Ddx46	T	C	13: 55,800,748 (GRCm39)	V301A	probably benign	Het
Dnah10	A	T	5: 124,907,097 (GRCm39)	I4209F	probably damaging	Het
E2f5	G	A	3: 14,668,917 (GRCm39)	E270K	probably benign	Het
Elp1	A	T	4: 56,784,647 (GRCm39)		probably null	Het
Esp24	C	T	17: 39,350,952 (GRCm39)	Q51*	probably null	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Fasn	G	T	11: 120,709,753 (GRCm39)	Q435K	probably benign	Het
Gpr17	T	C	18: 32,080,949 (GRCm39)	Y38C	probably damaging	Het
Lfng	T	C	5: 140,593,523 (GRCm39)	V118A	probably damaging	Het
Maco1	A	G	4: 134,563,654 (GRCm39)	V110A	probably damaging	Het
Muc5ac	T	C	7: 141,362,427 (GRCm39)		probably benign	Het
Myh1	T	G	11: 67,105,835 (GRCm39)	L1150R	probably damaging	Het
Plod3	T	G	5: 137,017,310 (GRCm39)	I111S	probably damaging	Het
Sh2d4a	T	A	8: 68,746,970 (GRCm39)	V66D	probably damaging	Het
Thnsl2	A	G	6: 71,111,199 (GRCm39)	I223T	possibly damaging	Het
Tmem203	T	C	2: 25,145,785 (GRCm39)		probably null	Het
Tmppe	A	G	9: 114,234,553 (GRCm39)	D284G	probably damaging	Het
Ube2s	C	T	7: 4,813,581 (GRCm39)	R61H	possibly 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
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
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'- GGTTGTGTAGGCCTCCATTAC -3'
(R):5'- TTCAACCAGCTCATCCCATG -3'

Sequencing Primer
(F):5'- GTGTAGGCCTCCATTACATTAGAAC -3'
(R):5'- ACTGCGTTTTATCTGACTGCAG -3'

Posted On

2018-06-22