Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:Mideas'

734840

Institutional Source

Beutler Lab

Gene Symbol

Mideas

Ensembl Gene

ENSMUSG00000042507

Gene Name

mitotic deacetylase associated SANT domain protein

Synonyms

C130039O16Rik, Elmsan1, 9430029N19Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9794 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84195950-84265655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84220576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 126 (Q126L)

Ref Sequence

ENSEMBL: ENSMUSP00000048120 (fasta)

Gene Model

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

AlphaFold

E9Q2I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046266
AA Change: Q126L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507
AA Change: Q126L

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 damaging
Transcript: ENSMUST00000110294
AA Change: Q126L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507
AA Change: Q126L

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 damaging
Transcript: ENSMUST00000220974
AA Change: Q126L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,038 (GRCm39)	I39L	possibly damaging	Het
Acacb	T	C	5: 114,387,578 (GRCm39)	V2415A	probably benign	Het
Adgrg6	C	A	10: 14,314,196 (GRCm39)	G669C	probably damaging	Het
Ahcyl	A	G	16: 45,974,342 (GRCm39)	V345A	probably benign	Het
Arhgdib	A	G	6: 136,906,608 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,501,634 (GRCm39)	V643I	probably benign	Het
Aspm	T	A	1: 139,406,480 (GRCm39)	I1789N	probably damaging	Het
Atm	C	T	9: 53,429,867 (GRCm39)	V390I	probably benign	Het
AW554918	A	G	18: 25,337,031 (GRCm39)	E148G	probably damaging	Het
Bmal2	T	A	6: 146,734,033 (GRCm39)	D543E	probably benign	Het
Camk2a	T	C	18: 61,097,031 (GRCm39)	V327A	probably benign	Het
Celsr3	T	C	9: 108,728,502 (GRCm39)	V3302A	probably benign	Het
Ces2a	G	A	8: 105,467,896 (GRCm39)	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,920 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,509,522 (GRCm39)	*159R	probably null	Het
Cyp2b23	A	T	7: 26,381,121 (GRCm39)	Y79N	probably benign	Het
Dapk1	A	G	13: 60,909,082 (GRCm39)	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,673,154 (GRCm39)	T942S	probably benign	Het
Efnb3	G	A	11: 69,448,232 (GRCm39)	P70L	probably damaging	Het
Eln	G	T	5: 134,751,352 (GRCm39)	Y280*	probably null	Het
Epha8	G	T	4: 136,666,035 (GRCm39)	H374N	probably benign	Het
Erbin	A	T	13: 103,971,359 (GRCm39)	D752E	probably benign	Het
Fam149a	A	G	8: 45,834,449 (GRCm39)	S117P	possibly damaging	Het
Fchsd2	G	A	7: 100,893,410 (GRCm39)	C304Y	probably benign	Het
Galnt6	C	A	15: 100,595,859 (GRCm39)	V390L	probably damaging	Het
Grk3	T	C	5: 113,121,448 (GRCm39)		probably null	Het
Il17rc	A	T	6: 113,453,726 (GRCm39)	T237S	probably benign	Het
Inpp5b	A	G	4: 124,687,174 (GRCm39)	D800G	probably damaging	Het
Itga11	A	G	9: 62,662,868 (GRCm39)	N528S	probably benign	Het
Kif19b	T	A	5: 140,448,070 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,714,708 (GRCm39)	F442L	probably benign	Het
Ldah	G	T	12: 8,318,430 (GRCm39)	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,528,592 (GRCm39)	E5G	probably benign	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Liph	A	T	16: 21,774,862 (GRCm39)	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,703,235 (GRCm39)	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,594,073 (GRCm39)	L168Q	probably damaging	Het
Mylk4	G	T	13: 32,899,950 (GRCm39)	T312K	probably damaging	Het
Myzap	A	T	9: 71,487,082 (GRCm39)	M15K	probably benign	Het
Ngf	G	A	3: 102,428,132 (GRCm39)	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,264,302 (GRCm39)	I741V	probably benign	Het
Nrxn2	T	C	19: 6,567,064 (GRCm39)	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,334,954 (GRCm39)		probably null	Het
Or13a27	G	A	7: 139,925,483 (GRCm39)	Q140*	probably null	Het
Or5m8	A	G	2: 85,822,464 (GRCm39)	Y101C	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Phykpl	A	T	11: 51,489,212 (GRCm39)	H346L	probably benign	Het
Plk4	C	A	3: 40,759,535 (GRCm39)	L144I	probably damaging	Het
Pole	C	A	5: 110,466,201 (GRCm39)	P1301Q	probably benign	Het
Prkch	T	A	12: 73,744,744 (GRCm39)	N252K	possibly damaging	Het
Psen2	A	T	1: 180,068,294 (GRCm39)		probably null	Het
Ptgds	C	A	2: 25,359,129 (GRCm39)	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,204 (GRCm39)	T765A	probably benign	Het
Rab6b	T	C	9: 103,041,061 (GRCm39)	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335 (GRCm39)	F731L	probably damaging	Het
Resf1	T	A	6: 149,228,239 (GRCm39)	Y428*	probably null	Het
Rnf32	T	C	5: 29,429,125 (GRCm39)	I234T	probably damaging	Het
Scart2	G	A	7: 139,874,716 (GRCm39)	G398D	probably damaging	Het
Scn8a	T	A	15: 100,933,332 (GRCm39)	I1512N	probably benign	Het
Senp6	T	A	9: 79,999,590 (GRCm39)	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416 (GRCm39)	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,512,803 (GRCm39)	I185N	possibly damaging	Het
Syne2	C	A	12: 76,047,617 (GRCm39)	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,062,005 (GRCm39)	V1171A	probably benign	Het
Tmem63b	T	C	17: 45,977,252 (GRCm39)	N417S	probably benign	Het
Ttn	A	G	2: 76,706,193 (GRCm39)	V9176A	unknown	Het
Vmn1r210	T	C	13: 23,011,432 (GRCm39)	I285V	probably damaging	Het
Wbp11	C	T	6: 136,795,021 (GRCm39)	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,229,674 (GRCm39)	V950G	probably benign	Het
Zfp110	A	G	7: 12,578,521 (GRCm39)	N144S	probably benign	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
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
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'- AAGAGTTCAAGGGTGCTTGG -3'
(R):5'- CTAACAACCTGGCTCTCCTG -3'

Sequencing Primer
(F):5'- ACCTTCTGTGGCACCATGG -3'
(R):5'- AACCTGGCTCTCCTGAACAGTG -3'

Posted On

2022-11-14