Mutagenetix > Incidental Mutation

Incidental Mutation 'R5630:Mroh7'

442044

Institutional Source

Beutler Lab

Gene Symbol

Mroh7

Ensembl Gene

ENSMUSG00000047502

Gene Name

maestro heat-like repeat family member 7

Synonyms

Heatr8, Gm1027, LOC381538

MMRRC Submission

043281-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5630 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106537614-106588122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106577764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 305 (M305V)

Ref Sequence

ENSEMBL: ENSMUSP00000102382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106770] [ENSMUST00000145044] [ENSMUST00000148281]

AlphaFold

A2AVR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106770
AA Change: M305V

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: M305V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148281

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3s2	A	T	7: 79,559,647 (GRCm39)	V94E	probably damaging	Het
Aven	T	A	2: 112,344,890 (GRCm39)	Y109*	probably null	Het
Cad	T	C	5: 31,217,917 (GRCm39)	S401P	probably damaging	Het
Ccdc122	A	T	14: 77,330,216 (GRCm39)	I189F	probably damaging	Het
Cdkal1	A	T	13: 29,961,198 (GRCm39)		probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cnih4	C	G	1: 180,989,748 (GRCm39)	F120L	probably benign	Het
Cntnap5b	A	G	1: 99,999,794 (GRCm39)	D184G	probably damaging	Het
Cpa2	T	A	6: 30,550,731 (GRCm39)		probably null	Het
Cpne5	T	C	17: 29,445,190 (GRCm39)	D38G	probably damaging	Het
Dst	GGAATCGTGCACTCGAA	GGAA	1: 34,227,866 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,358,336 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,073,830 (GRCm39)	I239N	probably damaging	Het
Foxb1	T	A	9: 69,667,402 (GRCm39)	I43F	probably damaging	Het
Kcnq3	A	G	15: 65,896,971 (GRCm39)	W310R	probably damaging	Het
Klrb1a	A	T	6: 128,595,573 (GRCm39)	D60E	probably benign	Het
Lbr	A	G	1: 181,644,529 (GRCm39)		probably null	Het
Lsm8	T	A	6: 18,851,672 (GRCm39)	I41N	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5p4	T	A	7: 107,680,323 (GRCm39)	F107L	probably benign	Het
Or8c10	T	C	9: 38,279,402 (GRCm39)	Y177H	probably damaging	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Pcdhb5	A	T	18: 37,454,208 (GRCm39)	D196V	possibly damaging	Het
Pcmt1	A	G	10: 7,524,857 (GRCm39)	Y84H	probably damaging	Het
Pcnx2	A	T	8: 126,587,697 (GRCm39)	I877K	probably damaging	Het
Pcsk5	A	G	19: 17,553,195 (GRCm39)	Y662H	probably benign	Het
Prdx1	T	A	4: 116,556,414 (GRCm39)	D187E	probably benign	Het
Ranbp2	T	G	10: 58,314,898 (GRCm39)	Y1873D	probably damaging	Het
Rcor2	A	T	19: 7,248,416 (GRCm39)	R144W	probably damaging	Het
Rptor	T	G	11: 119,647,075 (GRCm39)	I222S	probably benign	Het
Rrp8	C	A	7: 105,382,608 (GRCm39)	R448L	possibly damaging	Het
Ryr2	A	T	13: 11,616,691 (GRCm39)	I3909N	probably damaging	Het
Scn2a	T	G	2: 65,556,709 (GRCm39)	V1147G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Smox	C	T	2: 131,366,786 (GRCm39)	Q582*	probably null	Het
Sqor	T	A	2: 122,651,277 (GRCm39)	L180H	possibly damaging	Het
Stox2	T	C	8: 47,644,925 (GRCm39)	D845G	probably damaging	Het
Szt2	T	C	4: 118,250,102 (GRCm39)	I469V	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tox	C	CTGGAGT	4: 6,688,835 (GRCm39)		probably benign	Het
Trgc2	A	G	13: 19,489,279 (GRCm39)	F151S	possibly damaging	Het
Upf2	T	C	2: 6,032,112 (GRCm39)	V141A	probably damaging	Het
Usp54	A	G	14: 20,615,125 (GRCm39)	L772P	probably damaging	Het
Vmn2r83	A	T	10: 79,327,785 (GRCm39)	T798S	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp143	C	T	7: 109,687,980 (GRCm39)	T473I	probably damaging	Het

Other mutations in Mroh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Mroh7	APN	4	106,560,358 (GRCm39)	missense	probably benign	0.00
IGL01729:Mroh7	APN	4	106,561,402 (GRCm39)	missense	possibly damaging	0.66
IGL01834:Mroh7	APN	4	106,538,071 (GRCm39)	missense	probably benign	0.00
IGL02003:Mroh7	APN	4	106,559,726 (GRCm39)	missense	probably damaging	0.96
IGL02135:Mroh7	APN	4	106,559,707 (GRCm39)	missense	probably damaging	1.00
IGL02335:Mroh7	APN	4	106,564,979 (GRCm39)	missense	probably damaging	1.00
IGL02532:Mroh7	APN	4	106,577,788 (GRCm39)	missense	probably benign	0.04
IGL02896:Mroh7	APN	4	106,557,013 (GRCm39)	missense	possibly damaging	0.94
IGL03066:Mroh7	APN	4	106,549,595 (GRCm39)	missense	possibly damaging	0.85
IGL03298:Mroh7	APN	4	106,571,288 (GRCm39)	nonsense	probably null
holy	UTSW	4	106,567,152 (GRCm39)	splice site	probably null
moley	UTSW	4	106,551,509 (GRCm39)	splice site	probably null
P0016:Mroh7	UTSW	4	106,565,054 (GRCm39)	critical splice acceptor site	probably null
R0019:Mroh7	UTSW	4	106,578,623 (GRCm39)	missense	probably benign	0.07
R0094:Mroh7	UTSW	4	106,560,381 (GRCm39)	missense	probably damaging	0.98
R0105:Mroh7	UTSW	4	106,568,467 (GRCm39)	missense	possibly damaging	0.49
R0105:Mroh7	UTSW	4	106,568,467 (GRCm39)	missense	possibly damaging	0.49
R0515:Mroh7	UTSW	4	106,548,861 (GRCm39)	missense	probably benign	0.01
R0828:Mroh7	UTSW	4	106,557,073 (GRCm39)	missense	probably damaging	0.99
R0831:Mroh7	UTSW	4	106,537,990 (GRCm39)	missense	possibly damaging	0.92
R1107:Mroh7	UTSW	4	106,564,791 (GRCm39)	splice site	probably null
R1301:Mroh7	UTSW	4	106,577,692 (GRCm39)	missense	probably damaging	0.99
R1456:Mroh7	UTSW	4	106,552,338 (GRCm39)	splice site	probably benign
R1491:Mroh7	UTSW	4	106,560,255 (GRCm39)	missense	probably benign	0.11
R1540:Mroh7	UTSW	4	106,560,273 (GRCm39)	missense	probably benign	0.11
R1560:Mroh7	UTSW	4	106,568,451 (GRCm39)	missense	possibly damaging	0.78
R1645:Mroh7	UTSW	4	106,577,865 (GRCm39)	missense	probably benign	0.19
R1804:Mroh7	UTSW	4	106,551,589 (GRCm39)	missense	possibly damaging	0.76
R2162:Mroh7	UTSW	4	106,557,378 (GRCm39)	missense	probably damaging	0.96
R2265:Mroh7	UTSW	4	106,578,124 (GRCm39)	missense	probably benign	0.01
R2866:Mroh7	UTSW	4	106,548,287 (GRCm39)	missense	probably damaging	1.00
R3716:Mroh7	UTSW	4	106,561,407 (GRCm39)	missense	probably benign	0.25
R3718:Mroh7	UTSW	4	106,561,407 (GRCm39)	missense	probably benign	0.25
R4530:Mroh7	UTSW	4	106,577,634 (GRCm39)	missense	possibly damaging	0.71
R4661:Mroh7	UTSW	4	106,548,710 (GRCm39)	critical splice donor site	probably null
R4706:Mroh7	UTSW	4	106,548,821 (GRCm39)	missense	possibly damaging	0.86
R4910:Mroh7	UTSW	4	106,567,152 (GRCm39)	splice site	probably null
R4965:Mroh7	UTSW	4	106,548,184 (GRCm39)	missense	possibly damaging	0.77
R4969:Mroh7	UTSW	4	106,538,070 (GRCm39)	missense	probably benign
R4971:Mroh7	UTSW	4	106,548,749 (GRCm39)	missense	probably benign	0.04
R5083:Mroh7	UTSW	4	106,547,515 (GRCm39)	missense	probably benign	0.03
R5207:Mroh7	UTSW	4	106,578,583 (GRCm39)	missense	probably damaging	0.97
R5364:Mroh7	UTSW	4	106,548,840 (GRCm39)	missense	probably benign	0.10
R5392:Mroh7	UTSW	4	106,568,448 (GRCm39)	critical splice donor site	probably null
R5691:Mroh7	UTSW	4	106,559,815 (GRCm39)	missense	probably damaging	0.96
R5703:Mroh7	UTSW	4	106,565,757 (GRCm39)	missense	possibly damaging	0.77
R5707:Mroh7	UTSW	4	106,539,082 (GRCm39)	missense	possibly damaging	0.73
R5919:Mroh7	UTSW	4	106,551,509 (GRCm39)	splice site	probably null
R5979:Mroh7	UTSW	4	106,578,123 (GRCm39)	missense	probably benign	0.00
R6479:Mroh7	UTSW	4	106,560,385 (GRCm39)	missense	possibly damaging	0.75
R6520:Mroh7	UTSW	4	106,578,460 (GRCm39)	missense	probably benign	0.00
R6657:Mroh7	UTSW	4	106,559,697 (GRCm39)	nonsense	probably null
R6732:Mroh7	UTSW	4	106,537,910 (GRCm39)	frame shift	probably null
R6817:Mroh7	UTSW	4	106,571,312 (GRCm39)	missense	probably benign	0.00
R6980:Mroh7	UTSW	4	106,557,434 (GRCm39)	missense	probably benign	0.05
R7062:Mroh7	UTSW	4	106,541,177 (GRCm39)	missense	probably damaging	1.00
R7116:Mroh7	UTSW	4	106,568,517 (GRCm39)	missense	probably benign	0.07
R7134:Mroh7	UTSW	4	106,577,791 (GRCm39)	missense	probably damaging	0.99
R7169:Mroh7	UTSW	4	106,548,836 (GRCm39)	missense	probably damaging	0.99
R7419:Mroh7	UTSW	4	106,541,115 (GRCm39)	missense	probably benign
R7516:Mroh7	UTSW	4	106,548,316 (GRCm39)	missense	probably benign	0.00
R7525:Mroh7	UTSW	4	106,566,899 (GRCm39)	missense	probably benign	0.22
R7540:Mroh7	UTSW	4	106,577,595 (GRCm39)	missense	possibly damaging	0.85
R7849:Mroh7	UTSW	4	106,578,287 (GRCm39)	missense	probably benign
R7920:Mroh7	UTSW	4	106,564,773 (GRCm39)	missense	probably benign
R7998:Mroh7	UTSW	4	106,568,478 (GRCm39)	missense	probably benign	0.02
R8026:Mroh7	UTSW	4	106,578,634 (GRCm39)	missense	probably benign	0.01
R8122:Mroh7	UTSW	4	106,559,726 (GRCm39)	missense	probably damaging	0.96
R8249:Mroh7	UTSW	4	106,578,409 (GRCm39)	missense	probably benign	0.00
R9188:Mroh7	UTSW	4	106,566,789 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGCTGTAACACCCTGCAG -3'
(R):5'- AGGCCATCACGTTGACTTC -3'

Sequencing Primer
(F):5'- TGTAACACCCTGCAGGCTGTC -3'
(R):5'- TTCTAAAGAAGCCTTGAGTGCACC -3'

Posted On

2016-11-08