Mutagenetix > Incidental Mutation

Incidental Mutation 'R5900:Simc1'

456291

Institutional Source

Beutler Lab

Gene Symbol

Simc1

Ensembl Gene

ENSMUSG00000043183

Gene Name

SUMO-interacting motifs containing 1

Synonyms

4732471D19Rik

MMRRC Submission

044099-MU

Accession Numbers

Essential gene?

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

Stock #

R5900 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54651592-54699103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54694837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 306 (V306A)

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: V306A

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

SMART Domains

Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183
AA Change: V306A

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: V1207A

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

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183
AA Change: V1207A

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: 99.4%
10x: 97.3%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,169,982 (GRCm39)	T1341S	possibly damaging	Het
Abcc12	T	C	8: 87,293,149 (GRCm39)	D13G	possibly damaging	Het
Adam24	T	C	8: 41,134,071 (GRCm39)	V513A	probably benign	Het
Adgrg6	C	T	10: 14,314,163 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,617,805 (GRCm39)	T1995A	probably benign	Het
Apoh	G	T	11: 108,302,843 (GRCm39)	K269N	probably damaging	Het
Bahcc1	C	T	11: 120,175,319 (GRCm39)	L1798F	probably damaging	Het
Brca2	T	A	5: 150,464,597 (GRCm39)	C1454S	probably benign	Het
Clip2	T	C	5: 134,531,633 (GRCm39)	D689G	possibly damaging	Het
Cpa5	T	C	6: 30,615,115 (GRCm39)	V84A	probably damaging	Het
Ctsh	T	C	9: 89,946,621 (GRCm39)	I116T	probably damaging	Het
Dlg5	T	A	14: 24,199,515 (GRCm39)	E1463V	probably damaging	Het
Dnah11	C	T	12: 118,046,166 (GRCm39)		probably null	Het
Dstyk	G	A	1: 132,384,717 (GRCm39)	R737Q	probably damaging	Het
Galr1	A	G	18: 82,411,982 (GRCm39)	S295P	probably damaging	Het
Gpx2	A	G	12: 76,839,653 (GRCm39)	V115A	probably damaging	Het
Hhipl2	A	G	1: 183,207,597 (GRCm39)	I219V	possibly damaging	Het
Hkdc1	T	C	10: 62,244,445 (GRCm39)	M214V	possibly damaging	Het
Lrfn2	T	C	17: 49,377,291 (GRCm39)	V124A	possibly damaging	Het
Lrrcc1	T	G	3: 14,627,186 (GRCm39)	S704R	possibly damaging	Het
Marveld2	T	C	13: 100,748,176 (GRCm39)	Y301C	probably damaging	Het
Mcpt8	T	C	14: 56,319,740 (GRCm39)	I237V	probably damaging	Het
Mtus1	A	T	8: 41,536,534 (GRCm39)	V394D	possibly damaging	Het
Ncapd3	T	A	9: 26,978,265 (GRCm39)	D821E	probably benign	Het
Pcdh9	T	C	14: 93,564,156 (GRCm39)	D1058G	probably damaging	Het
Pld2	G	A	11: 70,446,888 (GRCm39)		probably null	Het
Prdm2	A	G	4: 142,861,290 (GRCm39)	S667P	probably damaging	Het
Ptgdr2	A	T	19: 10,918,352 (GRCm39)		probably null	Het
Rfx7	C	T	9: 72,524,538 (GRCm39)	T576I	probably benign	Het
Safb	T	C	17: 56,907,349 (GRCm39)	C426R	unknown	Het
Serpina9	G	A	12: 103,975,130 (GRCm39)	R8*	probably null	Het
Shank3	G	A	15: 89,387,593 (GRCm39)	R254Q	probably damaging	Het
Srfbp1	A	G	18: 52,621,853 (GRCm39)	T305A	probably benign	Het
Tdrd5	A	T	1: 156,105,005 (GRCm39)	C463*	probably null	Het
Tmem132d	A	T	5: 128,346,336 (GRCm39)	L62Q	probably damaging	Het
Trank1	T	A	9: 111,220,784 (GRCm39)	L2507H	probably damaging	Het
Usp45	T	C	4: 21,830,451 (GRCm39)	V702A	probably damaging	Het
Wnk2	A	G	13: 49,256,308 (GRCm39)	I271T	probably damaging	Het
Zfp292	A	T	4: 34,805,125 (GRCm39)	L2640I	probably damaging	Het
Znrf3	G	T	11: 5,232,110 (GRCm39)	H468N	probably 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
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'- TGCCTAGCACTGGAATTATGGG -3'
(R):5'- GCGGGAAGATCAATGAGTCC -3'

Sequencing Primer
(F):5'- CACTGGAATTATGGGTATGCACC -3'
(R):5'- GGAAGATCAATGAGTCCCATTTAAG -3'

Posted On

2017-02-15