Mutagenetix > Incidental Mutation

Incidental Mutation 'R7920:Mroh7'

648276

Institutional Source

Beutler Lab

Gene Symbol

Mroh7

Ensembl Gene

ENSMUSG00000047502

Gene Name

maestro heat-like repeat family member 7

Synonyms

Heatr8, LOC381538, Gm1027

MMRRC Submission

045967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106680417-106730925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106707576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 562 (T562A)

Ref Sequence

ENSEMBL: ENSMUSP00000102382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106770] [ENSMUST00000145044]

AlphaFold

A2AVR2

Predicted Effect

probably benign
Transcript: ENSMUST00000106770
AA Change: T562A

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

SMART Domains

Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: T562A

Domain	Start	End	E-Value	Type
low complexity region	39	61	N/A	INTRINSIC
low complexity region	318	332	N/A	INTRINSIC
low complexity region	563	573	N/A	INTRINSIC
SCOP:d1b3ua_	634	1218	6e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145044

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,996,173	S9P	probably damaging	Het
AI661453	A	T	17: 47,468,406	Q1019L	unknown	Het
Aldh1a1	T	A	19: 20,617,937	W77R	probably damaging	Het
Cc2d2a	T	C	5: 43,739,309	I1516T	probably benign	Het
Ccdc149	T	A	5: 52,405,094	I197F	probably damaging	Het
Ccdc189	A	G	7: 127,587,953	M46T	probably benign	Het
Cfb	A	G	17: 34,860,891	V176A	probably benign	Het
Chordc1	A	G	9: 18,302,101	K83E	probably benign	Het
Cic	G	A	7: 25,271,959	V372M	probably benign	Het
Coq2	T	A	5: 100,663,875		probably benign	Het
Cradd	A	G	10: 95,322,711	L58P	probably damaging	Het
Crim1	A	T	17: 78,303,064	D316V	probably damaging	Het
Cyb5rl	C	A	4: 107,071,008	L114I	possibly damaging	Het
Cyp2c69	T	G	19: 39,877,803		probably null	Het
Ddhd1	A	G	14: 45,657,470	F181S	probably damaging	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dmrt1	T	C	19: 25,506,019	S56P	possibly damaging	Het
Dnah12	A	G	14: 26,856,542	E3086G	possibly damaging	Het
Dnah5	A	T	15: 28,453,222	M4380L	probably benign	Het
Dph7	A	T	2: 24,971,612	M346L	probably benign	Het
Dusp27	T	A	1: 166,099,896	N716Y	possibly damaging	Het
Egf	C	T	3: 129,735,840	R307H	probably benign	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Fcna	T	C	2: 25,626,286	K112E	probably benign	Het
Fkbp5	A	T	17: 28,429,239	N125K	possibly damaging	Het
Foxo3	C	T	10: 42,197,769	V251I	possibly damaging	Het
Fryl	T	A	5: 73,101,807		probably null	Het
Fsip2	A	G	2: 82,951,021	E253G	possibly damaging	Het
Gm49333	A	G	16: 20,637,692	E428G	possibly damaging	Het
Gprc6a	T	A	10: 51,614,930	T908S	probably benign	Het
Grin2c	A	T	11: 115,254,144	F560L	probably benign	Het
Hao1	T	A	2: 134,548,252	N56Y	probably damaging	Het
Haus3	T	C	5: 34,167,702	I204M	probably benign	Het
Htr3b	C	A	9: 48,937,156	C263F	probably damaging	Het
Ica1	A	T	6: 8,742,274	C120S	probably benign	Het
Inpp4a	T	A	1: 37,367,805	S210T	probably benign	Het
Inpp5d	T	G	1: 87,705,949	I699S	probably damaging	Het
Kcng1	A	G	2: 168,262,984	V314A	probably benign	Het
Lcn11	G	A	2: 25,779,331	V167M	possibly damaging	Het
Lingo3	C	A	10: 80,834,548	R516L	probably benign	Het
Lrmda	T	C	14: 22,596,478	V151A	probably damaging	Het
Ly6g5b	A	C	17: 35,114,602	I133R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Nlrc4	A	G	17: 74,427,119	M933T	probably benign	Het
Olfr539	A	T	7: 140,667,901	S198C	possibly damaging	Het
Pkhd1	A	T	1: 20,275,535	D2756E	probably damaging	Het
Plekhm2	T	C	4: 141,632,121	D445G	probably damaging	Het
Ppp1r12c	C	T	7: 4,483,355	G605D	probably benign	Het
Pygb	T	A	2: 150,787,002	N45K	possibly damaging	Het
Scn4b	A	G	9: 45,146,771	T54A	probably damaging	Het
Scrt1	T	A	15: 76,519,217	H191L	unknown	Het
Sdc3	A	G	4: 130,819,196	M289V	probably benign	Het
Shb	C	T	4: 45,489,054		probably null	Het
Slc1a5	A	G	7: 16,793,870	T364A	probably damaging	Het
Slc25a27	A	G	17: 43,649,673	V218A	probably benign	Het
Slc39a4	C	T	15: 76,614,085	G384D	probably damaging	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Tmem67	A	T	4: 12,089,284		probably null	Het
Tonsl	C	T	15: 76,634,587	R544H	probably damaging	Het
Trex1	A	G	9: 109,058,089	V278A	unknown	Het
Ttn	A	T	2: 76,795,157	D15107E	probably damaging	Het
Tubgcp5	A	G	7: 55,816,562	T621A	probably benign	Het
Zfhx4	T	C	3: 5,400,455	V1916A	possibly damaging	Het
Zfp260	A	T	7: 30,105,592	K306*	probably null	Het
Zkscan7	A	T	9: 122,895,909	T648S	probably benign	Het
Zscan4c	T	A	7: 11,009,772	F433I	possibly damaging	Het

Other mutations in Mroh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Mroh7	APN	4	106703161	missense	probably benign	0.00
IGL01729:Mroh7	APN	4	106704205	missense	possibly damaging	0.66
IGL01834:Mroh7	APN	4	106680874	missense	probably benign	0.00
IGL02003:Mroh7	APN	4	106702529	missense	probably damaging	0.96
IGL02135:Mroh7	APN	4	106702510	missense	probably damaging	1.00
IGL02335:Mroh7	APN	4	106707782	missense	probably damaging	1.00
IGL02532:Mroh7	APN	4	106720591	missense	probably benign	0.04
IGL02896:Mroh7	APN	4	106699816	missense	possibly damaging	0.94
IGL03066:Mroh7	APN	4	106692398	missense	possibly damaging	0.85
IGL03298:Mroh7	APN	4	106714091	nonsense	probably null
holy	UTSW	4	106709955	splice site	probably null
moley	UTSW	4	106694312	splice site	probably null
P0016:Mroh7	UTSW	4	106707857	critical splice acceptor site	probably null
R0019:Mroh7	UTSW	4	106721426	missense	probably benign	0.07
R0094:Mroh7	UTSW	4	106703184	missense	probably damaging	0.98
R0105:Mroh7	UTSW	4	106711270	missense	possibly damaging	0.49
R0105:Mroh7	UTSW	4	106711270	missense	possibly damaging	0.49
R0515:Mroh7	UTSW	4	106691664	missense	probably benign	0.01
R0828:Mroh7	UTSW	4	106699876	missense	probably damaging	0.99
R0831:Mroh7	UTSW	4	106680793	missense	possibly damaging	0.92
R1107:Mroh7	UTSW	4	106707594	splice site	probably null
R1301:Mroh7	UTSW	4	106720495	missense	probably damaging	0.99
R1456:Mroh7	UTSW	4	106695141	splice site	probably benign
R1491:Mroh7	UTSW	4	106703058	missense	probably benign	0.11
R1540:Mroh7	UTSW	4	106703076	missense	probably benign	0.11
R1560:Mroh7	UTSW	4	106711254	missense	possibly damaging	0.78
R1645:Mroh7	UTSW	4	106720668	missense	probably benign	0.19
R1804:Mroh7	UTSW	4	106694392	missense	possibly damaging	0.76
R2162:Mroh7	UTSW	4	106700181	missense	probably damaging	0.96
R2265:Mroh7	UTSW	4	106720927	missense	probably benign	0.01
R2866:Mroh7	UTSW	4	106691090	missense	probably damaging	1.00
R3716:Mroh7	UTSW	4	106704210	missense	probably benign	0.25
R3718:Mroh7	UTSW	4	106704210	missense	probably benign	0.25
R4530:Mroh7	UTSW	4	106720437	missense	possibly damaging	0.71
R4661:Mroh7	UTSW	4	106691513	critical splice donor site	probably null
R4706:Mroh7	UTSW	4	106691624	missense	possibly damaging	0.86
R4910:Mroh7	UTSW	4	106709955	splice site	probably null
R4965:Mroh7	UTSW	4	106690987	missense	possibly damaging	0.77
R4969:Mroh7	UTSW	4	106680873	missense	probably benign
R4971:Mroh7	UTSW	4	106691552	missense	probably benign	0.04
R5083:Mroh7	UTSW	4	106690318	missense	probably benign	0.03
R5207:Mroh7	UTSW	4	106721386	missense	probably damaging	0.97
R5364:Mroh7	UTSW	4	106691643	missense	probably benign	0.10
R5392:Mroh7	UTSW	4	106711251	critical splice donor site	probably null
R5630:Mroh7	UTSW	4	106720567	missense	possibly damaging	0.71
R5691:Mroh7	UTSW	4	106702618	missense	probably damaging	0.96
R5703:Mroh7	UTSW	4	106708560	missense	possibly damaging	0.77
R5707:Mroh7	UTSW	4	106681885	missense	possibly damaging	0.73
R5919:Mroh7	UTSW	4	106694312	splice site	probably null
R5979:Mroh7	UTSW	4	106720926	missense	probably benign	0.00
R6479:Mroh7	UTSW	4	106703188	missense	possibly damaging	0.75
R6520:Mroh7	UTSW	4	106721263	missense	probably benign	0.00
R6657:Mroh7	UTSW	4	106702500	nonsense	probably null
R6732:Mroh7	UTSW	4	106680713	frame shift	probably null
R6817:Mroh7	UTSW	4	106714115	missense	probably benign	0.00
R6980:Mroh7	UTSW	4	106700237	missense	probably benign	0.05
R7062:Mroh7	UTSW	4	106683980	missense	probably damaging	1.00
R7116:Mroh7	UTSW	4	106711320	missense	probably benign	0.07
R7134:Mroh7	UTSW	4	106720594	missense	probably damaging	0.99
R7169:Mroh7	UTSW	4	106691639	missense	probably damaging	0.99
R7419:Mroh7	UTSW	4	106683918	missense	probably benign
R7516:Mroh7	UTSW	4	106691119	missense	probably benign	0.00
R7525:Mroh7	UTSW	4	106709702	missense	probably benign	0.22
R7540:Mroh7	UTSW	4	106720398	missense	possibly damaging	0.85
R7849:Mroh7	UTSW	4	106721090	missense	probably benign
R7998:Mroh7	UTSW	4	106711281	missense	probably benign	0.02
R8026:Mroh7	UTSW	4	106721437	missense	probably benign	0.01
R8122:Mroh7	UTSW	4	106702529	missense	probably damaging	0.96
R8249:Mroh7	UTSW	4	106721212	missense	probably benign	0.00
R9188:Mroh7	UTSW	4	106709592	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGAGTTTCCCATCAGCTCC -3'
(R):5'- CCCTGCCATTCTTAGTGAGTG -3'

Sequencing Primer
(F):5'- AGGAGTTTCCCATCAGCTCCTAATC -3'
(R):5'- CTGCCATTCTTAGTGAGTGTTCCTG -3'

Posted On

2020-09-15