Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Simc1'

406007

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54503779-54551290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54524982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 381 (V381E)

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: V381E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: V381E

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,925,179	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dnajc11	A	G	4: 151,968,526	T98A	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197	S272P	probably benign	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Olfr843	C	T	9: 19,249,033	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Plg	A	G	17: 12,403,227	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vezt	T	A	10: 93,970,331	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	Het
Yeats2	T	C	16: 20,186,425	V385A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTACCTCAAGATGTTCCAGGC -3'
(R):5'- ATCACACTTCCTGATGACTGC -3'

Sequencing Primer
(F):5'- AAGATGTTCCAGGCCGACCTC -3'
(R):5'- TCCTGATGACTGCATCAC -3'

Posted On

2016-07-22