Mutagenetix > Incidental Mutations

Incidental Mutation 'R6271:Simc1'

507355

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

044379-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6271 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54503779-54551290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54539724 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 102 (V102G)

Ref Sequence

ENSEMBL: ENSMUSP00000124921 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118072
AA Change: V203G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
AA Change: V203G

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: V1104G

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: V1104G

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

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 damaging
Transcript: ENSMUST00000159721
AA Change: V102G

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

SMART Domains

Protein: ENSMUSP00000124921
Gene: ENSMUSG00000043183
AA Change: V102G

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: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	T	4: 133,064,724	C1092F	possibly damaging	Het
Aplf	T	C	6: 87,646,248	E304G	possibly damaging	Het
Atp12a	A	G	14: 56,378,422	D547G	probably benign	Het
B3gat2	T	C	1: 23,815,261	L212P	probably damaging	Het
Babam2	G	T	5: 32,001,362	A219S	probably damaging	Het
Ccdc18	A	C	5: 108,174,887	S618R	possibly damaging	Het
Ces2c	G	A	8: 104,852,116	G342D	probably damaging	Het
Cfap57	A	C	4: 118,595,759	D582E	probably benign	Het
Cisd2	T	C	3: 135,408,866	N115D	possibly damaging	Het
Cyp17a1	A	G	19: 46,672,720	F42L	probably benign	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Fam234a	T	C	17: 26,218,237	D156G	probably benign	Het
Fer1l6	T	A	15: 58,641,918	I1554K	probably benign	Het
Fv1	A	G	4: 147,870,017	T347A	possibly damaging	Het
Gm5134	T	A	10: 75,995,809	C361S	probably benign	Het
Gm5415	T	A	1: 32,545,491	D446V	probably damaging	Het
Grin3a	T	C	4: 49,792,516	I406V	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifna13	A	C	4: 88,643,845	L181V	possibly damaging	Het
Irx4	A	G	13: 73,266,594		probably null	Het
Kcna3	T	A	3: 107,037,606	M395K	probably damaging	Het
Kcnma1	A	T	14: 23,509,889	V347D	probably damaging	Het
Kng2	A	T	16: 23,003,948	V218E	probably benign	Het
Krt36	G	A	11: 100,104,472	Q167*	probably null	Het
Lama2	T	C	10: 27,023,329	D2457G	possibly damaging	Het
Ldah	G	A	12: 8,268,599		probably null	Het
Lhfpl3	G	T	5: 22,746,244	A18S	probably benign	Het
Lrrk1	A	G	7: 66,307,103		probably null	Het
Ltv1	T	C	10: 13,179,701	Y352C	probably damaging	Het
Lyst	G	T	13: 13,658,754	M1720I	probably benign	Het
Mkx	A	T	18: 6,937,059		probably null	Het
Myo18a	A	G	11: 77,820,809	H626R	probably damaging	Het
Nop9	A	C	14: 55,753,741	Q618H	probably damaging	Het
Olfr1255	T	C	2: 89,816,562	S73P	probably damaging	Het
Olfr25	T	C	9: 38,330,282	S232P	probably benign	Het
Olfr358	T	C	2: 37,005,542	Q24R	probably damaging	Het
Olfr850	A	G	9: 19,478,041	S67P	probably damaging	Het
Otog	C	A	7: 46,252,040	Q388K	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Oxct2b	T	G	4: 123,117,715	V476G	probably damaging	Het
Parp10	T	C	15: 76,242,002	T329A	probably benign	Het
Pcdhga5	T	C	18: 37,696,682	S728P	probably benign	Het
Piezo1	G	T	8: 122,494,932	H574Q	probably damaging	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Pqlc3	T	C	12: 16,997,703	D76G	probably damaging	Het
Preb	C	A	5: 30,958,051	V255F	probably damaging	Het
Prmt9	A	G	8: 77,577,463	N725S	probably damaging	Het
Ric1	A	T	19: 29,567,365		probably null	Het
Serinc3	G	C	2: 163,630,976	L245V	probably benign	Het
Sgce	T	C	6: 4,730,015	K70E	possibly damaging	Het
Smyd2	A	G	1: 189,883,852	Y362H	probably damaging	Het
Sptbn1	G	T	11: 30,100,660	H2310N	probably benign	Het
Syne1	T	C	10: 5,234,652	Y4077C	probably damaging	Het
Syne2	C	A	12: 75,890,381	A251E	probably damaging	Het
Taok1	A	T	11: 77,573,783	L159Q	probably damaging	Het
Timeless	T	C	10: 128,250,724	L1043P	probably damaging	Het
Tmprss3	T	C	17: 31,186,562	E352G	probably damaging	Het
Trav6-4	A	T	14: 53,454,582	T46S	probably benign	Het
Ubiad1	A	T	4: 148,436,626	Y180*	probably null	Het
Usp47	A	G	7: 112,087,056	E627G	probably damaging	Het
Vmn2r124	A	G	17: 18,062,883	T280A	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
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
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'- AACCATGCTGCTCTTTGTTAGAC -3'
(R):5'- AGCAATCTGTTCTTAGGACAGTCC -3'

Sequencing Primer
(F):5'- CTTGCTTAAATACTGAACATAACCCC -3'
(R):5'- GGACAGTCCTATTTGCTAGATACC -3'

Posted On

2018-03-15