Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Simc1'

36282

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

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

Stock #

R0362 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

54651592-54699103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54676280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 98 (I98T)

Ref Sequence

ENSEMBL: ENSMUSP00000112376 (fasta)

Gene Model

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

AlphaFold

E9Q6E9

Predicted Effect

probably damaging
Transcript: ENSMUST00000118072
AA Change: I98T

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

SMART Domains

Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
AA Change: I98T

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: I999T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: I999T

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

0.4986

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,563,261 (GRCm39)	Q401R	probably benign	Het
Acp3	A	G	9: 104,191,626 (GRCm39)	F220S	probably damaging	Het
Adam7	A	G	14: 68,747,105 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,526,584 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,625,051 (GRCm39)		probably benign	Het
Atg10	T	C	13: 91,189,109 (GRCm39)		probably null	Het
Atm	T	C	9: 53,370,138 (GRCm39)	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,060,443 (GRCm39)	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551 (GRCm39)	K1111E	probably damaging	Het
Ciao2b	T	C	8: 105,368,222 (GRCm39)	D34G	probably null	Het
Col11a2	T	A	17: 34,281,420 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,236 (GRCm39)	W116R	probably damaging	Het
Ctsk	A	T	3: 95,408,255 (GRCm39)	Y37F	probably damaging	Het
Daam2	G	C	17: 49,787,813 (GRCm39)		probably null	Het
Dcdc2b	T	C	4: 129,504,031 (GRCm39)		probably null	Het
Ddx28	C	T	8: 106,737,926 (GRCm39)	R44Q	probably damaging	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Dnah17	A	T	11: 117,989,365 (GRCm39)	M1281K	probably benign	Het
Dnah6	T	C	6: 73,185,592 (GRCm39)	S110G	probably benign	Het
Drc7	T	C	8: 95,799,483 (GRCm39)	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487 (GRCm39)		probably null	Het
Ecm1	A	G	3: 95,644,369 (GRCm39)	I152T	possibly damaging	Het
Edc4	C	G	8: 106,613,407 (GRCm39)	P307R	probably damaging	Het
Eeig2	C	T	3: 108,887,497 (GRCm39)	E256K	probably benign	Het
Egr1	A	G	18: 34,996,366 (GRCm39)	T383A	possibly damaging	Het
Eml2	A	G	7: 18,924,731 (GRCm39)		probably null	Het
Eno4	A	G	19: 58,932,056 (GRCm39)		probably benign	Het
Erbb4	A	T	1: 68,369,429 (GRCm39)	I404K	probably damaging	Het
Exoc7	G	T	11: 116,186,488 (GRCm39)	T310K	probably benign	Het
Fam83e	G	T	7: 45,376,393 (GRCm39)	V369L	probably benign	Het
Fancc	A	T	13: 63,545,970 (GRCm39)	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,151,697 (GRCm39)	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,223,133 (GRCm39)	C826*	probably null	Het
Foxi3	A	G	6: 70,933,612 (GRCm39)	D33G	probably benign	Het
Gcn1	T	C	5: 115,714,167 (GRCm39)		probably benign	Het
Gm14221	T	C	2: 160,410,310 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,384,853 (GRCm39)	H630Q	probably benign	Het
Gpat4	T	C	8: 23,670,949 (GRCm39)	S88G	probably benign	Het
Gucy2d	A	T	7: 98,092,892 (GRCm39)	S90C	probably damaging	Het
Has2	A	C	15: 56,545,057 (GRCm39)	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,935,644 (GRCm39)	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,348,038 (GRCm39)	V48A	probably benign	Het
Lig1	T	A	7: 13,030,730 (GRCm39)		probably benign	Het
Magi2	A	G	5: 19,432,573 (GRCm39)	K96R	probably damaging	Het
Map7d1	G	T	4: 126,128,787 (GRCm39)	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439 (GRCm39)		probably null	Het
Mfsd4a	A	T	1: 131,987,013 (GRCm39)	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,086,526 (GRCm39)	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,785,600 (GRCm39)	V53M	probably damaging	Het
Myo9b	T	C	8: 71,800,414 (GRCm39)	W990R	probably damaging	Het
Myt1	A	T	2: 181,405,186 (GRCm39)		probably benign	Het
Nf1	C	T	11: 79,427,704 (GRCm39)	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,439,623 (GRCm39)	V400A	possibly damaging	Het
Nup205	T	A	6: 35,173,649 (GRCm39)		probably null	Het
Nxf1	T	C	19: 8,741,515 (GRCm39)		probably null	Het
Or7a36	A	T	10: 78,820,220 (GRCm39)	M199L	probably benign	Het
P4hb	T	C	11: 120,454,162 (GRCm39)	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,574,457 (GRCm39)	N243S	probably benign	Het
Parp8	G	A	13: 117,061,504 (GRCm39)	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,568,380 (GRCm39)	D543A	probably benign	Het
Pld5	A	T	1: 175,803,146 (GRCm39)	L311*	probably null	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plpp5	A	T	8: 26,214,219 (GRCm39)	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,528,285 (GRCm39)	L542S	probably damaging	Het
Prkar2b	A	T	12: 32,037,973 (GRCm39)		probably null	Het
Psmg1	A	T	16: 95,789,171 (GRCm39)	S129T	possibly damaging	Het
Radil	T	C	5: 142,529,582 (GRCm39)	D38G	probably benign	Het
Ric1	T	C	19: 29,578,411 (GRCm39)		probably null	Het
Rp1l1	T	A	14: 64,268,515 (GRCm39)	L1367*	probably null	Het
Rxfp1	A	T	3: 79,645,100 (GRCm39)	M1K	probably null	Het
Serpina6	G	T	12: 103,618,208 (GRCm39)	L202I	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,270,767 (GRCm39)		probably benign	Het
Slc34a1	T	A	13: 55,550,711 (GRCm39)		probably null	Het
Slfn10-ps	T	A	11: 82,926,600 (GRCm39)		noncoding transcript	Het
Sohlh2	A	G	3: 55,115,163 (GRCm39)	N383D	probably damaging	Het
Spag6	T	A	2: 18,715,302 (GRCm39)	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,388,475 (GRCm39)		probably benign	Het
St3gal4	T	A	9: 34,964,469 (GRCm39)	K199*	probably null	Het
Stat5a	T	A	11: 100,772,909 (GRCm39)	D712E	probably benign	Het
Stmn2	A	T	3: 8,610,750 (GRCm39)	D78V	probably damaging	Het
Stpg1	C	T	4: 135,233,777 (GRCm39)	P20S	possibly damaging	Het
Taf2	A	T	15: 54,909,325 (GRCm39)	V640E	probably damaging	Het
Tbce	T	C	13: 14,172,747 (GRCm39)	E501G	probably benign	Het
Tecpr2	A	G	12: 110,935,374 (GRCm39)	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,421,242 (GRCm39)	Y598*	probably null	Het
Ticrr	A	G	7: 79,327,088 (GRCm39)	S599G	probably damaging	Het
Tnc	A	C	4: 63,935,679 (GRCm39)	V419G	probably damaging	Het
Trappc1	C	A	11: 69,216,402 (GRCm39)	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,095,993 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,576,264 (GRCm39)	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,450,432 (GRCm39)	D181G	probably damaging	Het
Tut1	T	C	19: 8,932,891 (GRCm39)	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,678,412 (GRCm39)	C769F	probably benign	Het
Vdac1	T	C	11: 52,265,800 (GRCm39)		probably benign	Het
Vmn2r124	T	C	17: 18,284,486 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,426,977 (GRCm39)		probably benign	Het
Wdr35	T	C	12: 9,045,625 (GRCm39)		probably benign	Het
Zdhhc7	T	A	8: 120,813,386 (GRCm39)	E141V	probably null	Het
Zfp12	C	A	5: 143,230,978 (GRCm39)	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,626,819 (GRCm39)		probably benign	Het
Zfyve9	T	A	4: 108,538,166 (GRCm39)	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,772,013 (GRCm39)	S1572T	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
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
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'- AAGCGTAGAAGCCATCCTCATGCC -3'
(R):5'- TGAAGCATGTGACTCGTTGAGCC -3'

Sequencing Primer
(F):5'- GAAGCCATCCTCATGCCTATCTATC -3'
(R):5'- GGTCCAAGCAGCCATTTATG -3'

Posted On

2013-05-09