Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Mideas'

266693

Institutional Source

Beutler Lab

Gene Symbol

Mideas

Ensembl Gene

ENSMUSG00000042507

Gene Name

mitotic deacetylase associated SANT domain protein

Synonyms

C130039O16Rik, Elmsan1, 9430029N19Rik

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84195950-84265655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84203245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 886 (G886S)

Ref Sequence

ENSEMBL: ENSMUSP00000105923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046266] [ENSMUST00000110294] [ENSMUST00000220974]

AlphaFold

E9Q2I4

Predicted Effect

probably benign
Transcript: ENSMUST00000046266
AA Change: G886S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507
AA Change: G886S

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	107	117	N/A	INTRINSIC
low complexity region	124	132	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
ELM2	715	772	6.76e-14	SMART
low complexity region	798	814	N/A	INTRINSIC
SANT	821	869	1.44e-5	SMART
low complexity region	906	926	N/A	INTRINSIC
low complexity region	942	956	N/A	INTRINSIC
ZnF_C2H2	1030	1052	4.72e-2	SMART
low complexity region	1053	1082	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110294
AA Change: G886S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507
AA Change: G886S

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	107	117	N/A	INTRINSIC
low complexity region	124	132	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
ELM2	715	772	6.76e-14	SMART
low complexity region	798	814	N/A	INTRINSIC
SANT	821	869	1.44e-5	SMART
low complexity region	906	926	N/A	INTRINSIC
low complexity region	942	956	N/A	INTRINSIC
ZnF_C2H2	1030	1052	4.72e-2	SMART
low complexity region	1053	1082	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137562

Predicted Effect

probably benign
Transcript: ENSMUST00000220974
AA Change: G886S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Mideas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Mideas	APN	12	84,219,629 (GRCm39)	nonsense	probably null
IGL00913:Mideas	APN	12	84,219,632 (GRCm39)	missense	probably benign
IGL00944:Mideas	APN	12	84,207,322 (GRCm39)	splice site	probably benign
IGL01108:Mideas	APN	12	84,220,465 (GRCm39)	missense	probably damaging	1.00
IGL01952:Mideas	APN	12	84,220,040 (GRCm39)	missense	probably benign	0.00
IGL01961:Mideas	APN	12	84,220,388 (GRCm39)	missense	probably damaging	1.00
IGL02188:Mideas	APN	12	84,209,100 (GRCm39)	missense	probably benign	0.00
IGL02700:Mideas	APN	12	84,199,636 (GRCm39)	missense	probably benign	0.06
R0645:Mideas	UTSW	12	84,205,077 (GRCm39)	missense	possibly damaging	0.71
R1387:Mideas	UTSW	12	84,199,705 (GRCm39)	missense	probably damaging	0.98
R1740:Mideas	UTSW	12	84,219,676 (GRCm39)	missense	probably damaging	0.99
R1769:Mideas	UTSW	12	84,205,124 (GRCm39)	splice site	probably benign
R1795:Mideas	UTSW	12	84,205,748 (GRCm39)	critical splice donor site	probably null
R2146:Mideas	UTSW	12	84,219,809 (GRCm39)	missense	probably damaging	0.99
R2872:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R2940:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R3408:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R3689:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R3691:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R3840:Mideas	UTSW	12	84,218,383 (GRCm39)	missense	probably damaging	0.99
R4364:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R4366:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R4392:Mideas	UTSW	12	84,219,885 (GRCm39)	missense	probably benign	0.06
R4439:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R4440:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R4496:Mideas	UTSW	12	84,203,245 (GRCm39)	missense	probably benign	0.00
R5227:Mideas	UTSW	12	84,199,661 (GRCm39)	missense	probably benign	0.10
R6921:Mideas	UTSW	12	84,203,233 (GRCm39)	missense	probably damaging	0.99
R7675:Mideas	UTSW	12	84,220,574 (GRCm39)	missense	probably damaging	1.00
R8956:Mideas	UTSW	12	84,209,102 (GRCm39)	missense	probably benign
R8990:Mideas	UTSW	12	84,218,380 (GRCm39)	missense	probably benign
R9058:Mideas	UTSW	12	84,220,642 (GRCm39)	missense	probably damaging	0.98
R9106:Mideas	UTSW	12	84,199,327 (GRCm39)	missense	probably damaging	0.99
R9205:Mideas	UTSW	12	84,199,661 (GRCm39)	missense	probably benign	0.00
R9369:Mideas	UTSW	12	84,219,670 (GRCm39)	missense	probably benign
R9643:Mideas	UTSW	12	84,219,885 (GRCm39)	missense	probably benign	0.06
R9794:Mideas	UTSW	12	84,220,576 (GRCm39)	missense	probably damaging	0.98
Z1176:Mideas	UTSW	12	84,220,275 (GRCm39)	missense	probably damaging	0.98
Z1176:Mideas	UTSW	12	84,220,273 (GRCm39)	missense	probably damaging	0.99
Z1177:Mideas	UTSW	12	84,209,132 (GRCm39)	nonsense	probably null
Z1177:Mideas	UTSW	12	84,199,765 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTTCAGCATCAGCACCATC -3'
(R):5'- CCTAAGGCTTAAAGGGAACGTG -3'

Sequencing Primer
(F):5'- TCGATACCGGAGAGAGCTC -3'
(R):5'- CTAAGGCTTAAAGGGAACGTGAAGAG -3'

Posted On

2015-02-18