Mutagenetix > Incidental Mutation

Incidental Mutation 'R6990:Mroh2b'

543214

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

045096-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6990 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4928219-4991687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4942284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 349 (T349A)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045736]

AlphaFold

Q7M6Y6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045736
AA Change: T349A

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: T349A

Domain	Start	End	E-Value	Type
low complexity region	124	135	N/A	INTRINSIC
low complexity region	824	842	N/A	INTRINSIC
SCOP:d1gw5a_	937	1443	7e-15	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	G	10: 78,902,925 (GRCm39)	T464P	probably damaging	Het
Abca16	A	G	7: 120,126,950 (GRCm39)	I1214V	probably benign	Het
Arap2	A	G	5: 62,833,860 (GRCm39)	F869S	probably damaging	Het
Astn2	G	T	4: 65,910,540 (GRCm39)	H431N	possibly damaging	Het
Bap1	A	G	14: 30,977,608 (GRCm39)	T308A	probably benign	Het
Bcr	G	A	10: 74,966,868 (GRCm39)	E492K	possibly damaging	Het
Bltp3b	A	G	10: 89,641,979 (GRCm39)	D1050G	probably benign	Het
Camta1	A	G	4: 151,229,501 (GRCm39)	F444L	probably damaging	Het
Chd7	A	T	4: 8,844,525 (GRCm39)	T1545S	probably benign	Het
Dnmt1	A	T	9: 20,827,110 (GRCm39)	Y877*	probably null	Het
Fam13b	A	G	18: 34,630,500 (GRCm39)	V86A	possibly damaging	Het
Gm11562	T	A	11: 99,510,817 (GRCm39)	R128W	unknown	Het
Krt86	A	G	15: 101,371,714 (GRCm39)	I95V	probably benign	Het
Ms4a7	A	T	19: 11,310,605 (GRCm39)	L38Q	probably damaging	Het
Myo1h	T	C	5: 114,468,221 (GRCm39)	S339P	probably damaging	Het
Nf2	T	C	11: 4,749,944 (GRCm39)	I46V	probably benign	Het
Nr1h4	T	C	10: 89,290,792 (GRCm39)	D416G	probably benign	Het
Oga	G	A	19: 45,755,915 (GRCm39)	A576V	probably benign	Het
Or11l3	T	C	11: 58,516,284 (GRCm39)	E196G	probably damaging	Het
Or4p18	A	G	2: 88,232,639 (GRCm39)	M213T	probably benign	Het
Pde1c	C	G	6: 56,419,020 (GRCm39)	E87Q	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pga5	A	T	19: 10,646,779 (GRCm39)	D317E	probably benign	Het
Pira2	T	A	7: 3,844,067 (GRCm39)	K568N	probably damaging	Het
Ppp2cb	A	G	8: 34,109,161 (GRCm39)	D290G	probably benign	Het
Sall4	T	C	2: 168,596,990 (GRCm39)	K617E	probably damaging	Het
Slc7a14	G	A	3: 31,277,728 (GRCm39)	P626S	possibly damaging	Het
Speer4b	A	T	5: 27,702,076 (GRCm39)	L228*	probably null	Het
Spns2	T	C	11: 72,380,447 (GRCm39)	T59A	probably benign	Het
Tbc1d5	A	T	17: 51,275,260 (GRCm39)	N78K	probably benign	Het
Tmem63a	T	C	1: 180,788,686 (GRCm39)	V341A	probably benign	Het
Trpt1	A	G	19: 6,975,683 (GRCm39)	T146A	probably benign	Het
Tyrp1	T	C	4: 80,753,674 (GRCm39)	C122R	probably damaging	Het
Uchl1	A	G	5: 66,839,818 (GRCm39)	E120G	possibly damaging	Het
Ucn3	C	T	13: 3,991,295 (GRCm39)	R119Q	possibly damaging	Het
Vmn2r2	T	G	3: 64,024,608 (GRCm39)	I658L	probably benign	Het
Vmn2r96	T	A	17: 18,804,082 (GRCm39)	V444E	probably benign	Het
Wdr54	A	C	6: 83,132,629 (GRCm39)		probably null	Het
Xcr1	A	G	9: 123,685,300 (GRCm39)	L154P	probably benign	Het
Zbtb26	T	C	2: 37,326,557 (GRCm39)	K160E	probably benign	Het
Zfp157	T	G	5: 138,454,772 (GRCm39)	Y323*	probably null	Het
Zfp850	A	T	7: 27,689,801 (GRCm39)	F136I	probably benign	Het

Other mutations in Mroh2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Mroh2b	APN	15	4,928,679 (GRCm39)	missense	probably benign
IGL00507:Mroh2b	APN	15	4,991,609 (GRCm39)	missense	probably damaging	1.00
IGL00548:Mroh2b	APN	15	4,960,798 (GRCm39)	missense	probably benign	0.35
IGL00902:Mroh2b	APN	15	4,944,704 (GRCm39)	missense	probably damaging	1.00
IGL00944:Mroh2b	APN	15	4,980,609 (GRCm39)	splice site	probably benign
IGL00954:Mroh2b	APN	15	4,932,536 (GRCm39)	missense	probably damaging	0.99
IGL01015:Mroh2b	APN	15	4,971,024 (GRCm39)	missense	probably damaging	1.00
IGL01134:Mroh2b	APN	15	4,944,634 (GRCm39)	missense	probably benign	0.00
IGL01337:Mroh2b	APN	15	4,934,506 (GRCm39)	missense	probably benign	0.38
IGL01780:Mroh2b	APN	15	4,941,482 (GRCm39)	missense	probably benign	0.01
IGL01919:Mroh2b	APN	15	4,953,170 (GRCm39)	missense	probably benign	0.10
IGL02069:Mroh2b	APN	15	4,933,806 (GRCm39)	splice site	probably benign
IGL02146:Mroh2b	APN	15	4,980,776 (GRCm39)	splice site	probably null
IGL02221:Mroh2b	APN	15	4,953,123 (GRCm39)	missense	probably damaging	1.00
IGL02281:Mroh2b	APN	15	4,981,745 (GRCm39)	missense	probably benign	0.04
IGL02350:Mroh2b	APN	15	4,941,482 (GRCm39)	missense	probably benign	0.01
IGL02357:Mroh2b	APN	15	4,941,482 (GRCm39)	missense	probably benign	0.01
IGL02401:Mroh2b	APN	15	4,929,983 (GRCm39)	missense	possibly damaging	0.71
IGL02427:Mroh2b	APN	15	4,981,042 (GRCm39)	splice site	probably benign
IGL02432:Mroh2b	APN	15	4,943,668 (GRCm39)	missense	probably benign
IGL02582:Mroh2b	APN	15	4,937,997 (GRCm39)	missense	probably damaging	0.98
IGL02632:Mroh2b	APN	15	4,960,583 (GRCm39)	missense	probably damaging	0.99
IGL02741:Mroh2b	APN	15	4,935,114 (GRCm39)	missense	probably benign
IGL02811:Mroh2b	APN	15	4,944,718 (GRCm39)	missense	possibly damaging	0.55
IGL02826:Mroh2b	APN	15	4,991,630 (GRCm39)	missense	probably damaging	0.99
IGL03412:Mroh2b	APN	15	4,973,854 (GRCm39)	missense	probably benign	0.14
PIT4468001:Mroh2b	UTSW	15	4,942,294 (GRCm39)	missense	probably damaging	1.00
R0024:Mroh2b	UTSW	15	4,955,109 (GRCm39)	missense	probably damaging	1.00
R0333:Mroh2b	UTSW	15	4,960,600 (GRCm39)	missense	probably damaging	1.00
R0433:Mroh2b	UTSW	15	4,971,116 (GRCm39)	missense	probably benign	0.01
R0530:Mroh2b	UTSW	15	4,963,877 (GRCm39)	missense	probably damaging	0.97
R1411:Mroh2b	UTSW	15	4,947,799 (GRCm39)	missense	probably damaging	1.00
R1457:Mroh2b	UTSW	15	4,955,166 (GRCm39)	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4,955,166 (GRCm39)	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4,955,166 (GRCm39)	missense	probably damaging	1.00
R1472:Mroh2b	UTSW	15	4,978,137 (GRCm39)	missense	probably benign	0.00
R1525:Mroh2b	UTSW	15	4,980,612 (GRCm39)	splice site	probably null
R1584:Mroh2b	UTSW	15	4,955,166 (GRCm39)	missense	probably damaging	1.00
R1605:Mroh2b	UTSW	15	4,974,572 (GRCm39)	missense	probably benign	0.08
R1657:Mroh2b	UTSW	15	4,960,525 (GRCm39)	nonsense	probably null
R1671:Mroh2b	UTSW	15	4,980,776 (GRCm39)	splice site	probably null
R1698:Mroh2b	UTSW	15	4,943,622 (GRCm39)	missense	probably benign	0.02
R2002:Mroh2b	UTSW	15	4,955,166 (GRCm39)	missense	probably damaging	1.00
R2005:Mroh2b	UTSW	15	4,946,640 (GRCm39)	missense	probably damaging	1.00
R2077:Mroh2b	UTSW	15	4,974,448 (GRCm39)	missense	probably damaging	1.00
R2179:Mroh2b	UTSW	15	4,950,928 (GRCm39)	critical splice donor site	probably null
R2183:Mroh2b	UTSW	15	4,947,707 (GRCm39)	splice site	probably null
R3713:Mroh2b	UTSW	15	4,973,131 (GRCm39)	missense	probably benign	0.01
R3714:Mroh2b	UTSW	15	4,973,131 (GRCm39)	missense	probably benign	0.01
R3747:Mroh2b	UTSW	15	4,981,728 (GRCm39)	nonsense	probably null
R3748:Mroh2b	UTSW	15	4,981,728 (GRCm39)	nonsense	probably null
R3749:Mroh2b	UTSW	15	4,981,728 (GRCm39)	nonsense	probably null
R3750:Mroh2b	UTSW	15	4,981,728 (GRCm39)	nonsense	probably null
R3792:Mroh2b	UTSW	15	4,953,102 (GRCm39)	missense	probably damaging	1.00
R3872:Mroh2b	UTSW	15	4,954,543 (GRCm39)	nonsense	probably null
R4021:Mroh2b	UTSW	15	4,954,582 (GRCm39)	missense	possibly damaging	0.75
R4329:Mroh2b	UTSW	15	4,960,861 (GRCm39)	missense	probably damaging	0.99
R4456:Mroh2b	UTSW	15	4,977,407 (GRCm39)	missense	probably benign	0.21
R4592:Mroh2b	UTSW	15	4,947,772 (GRCm39)	missense	probably damaging	1.00
R4836:Mroh2b	UTSW	15	4,933,752 (GRCm39)	missense	probably damaging	1.00
R5050:Mroh2b	UTSW	15	4,929,932 (GRCm39)	missense	possibly damaging	0.82
R5230:Mroh2b	UTSW	15	4,971,004 (GRCm39)	missense	probably benign	0.07
R5342:Mroh2b	UTSW	15	4,943,615 (GRCm39)	nonsense	probably null
R5353:Mroh2b	UTSW	15	4,946,660 (GRCm39)	missense	probably damaging	1.00
R5368:Mroh2b	UTSW	15	4,935,054 (GRCm39)	missense	probably damaging	1.00
R5424:Mroh2b	UTSW	15	4,971,094 (GRCm39)	missense	probably damaging	0.98
R5484:Mroh2b	UTSW	15	4,938,463 (GRCm39)	missense	possibly damaging	0.92
R5999:Mroh2b	UTSW	15	4,942,366 (GRCm39)	splice site	probably null
R6046:Mroh2b	UTSW	15	4,980,763 (GRCm39)	missense	probably benign	0.01
R6081:Mroh2b	UTSW	15	4,973,859 (GRCm39)	missense	probably damaging	1.00
R6162:Mroh2b	UTSW	15	4,944,707 (GRCm39)	missense	probably damaging	1.00
R6165:Mroh2b	UTSW	15	4,947,832 (GRCm39)	missense	probably benign	0.23
R6240:Mroh2b	UTSW	15	4,964,126 (GRCm39)	missense	probably benign	0.38
R6487:Mroh2b	UTSW	15	4,976,721 (GRCm39)	missense	probably damaging	1.00
R6539:Mroh2b	UTSW	15	4,935,056 (GRCm39)	missense	probably damaging	1.00
R6616:Mroh2b	UTSW	15	4,982,764 (GRCm39)	missense	probably benign	0.36
R6663:Mroh2b	UTSW	15	4,977,417 (GRCm39)	missense	probably benign	0.21
R6820:Mroh2b	UTSW	15	4,982,756 (GRCm39)	missense	probably damaging	1.00
R6900:Mroh2b	UTSW	15	4,938,469 (GRCm39)	missense	probably benign	0.00
R7067:Mroh2b	UTSW	15	4,929,986 (GRCm39)	missense	probably benign	0.35
R7092:Mroh2b	UTSW	15	4,964,160 (GRCm39)	missense	possibly damaging	0.92
R7102:Mroh2b	UTSW	15	4,977,485 (GRCm39)	missense	probably benign	0.06
R7264:Mroh2b	UTSW	15	4,950,844 (GRCm39)	missense	possibly damaging	0.81
R7436:Mroh2b	UTSW	15	4,971,036 (GRCm39)	missense	probably benign	0.21
R7462:Mroh2b	UTSW	15	4,938,109 (GRCm39)	missense	probably damaging	1.00
R7529:Mroh2b	UTSW	15	4,978,491 (GRCm39)	missense	probably damaging	1.00
R7575:Mroh2b	UTSW	15	4,964,087 (GRCm39)	missense	probably damaging	1.00
R7579:Mroh2b	UTSW	15	4,960,543 (GRCm39)	missense	probably benign	0.09
R7605:Mroh2b	UTSW	15	4,974,505 (GRCm39)	missense	probably damaging	1.00
R7624:Mroh2b	UTSW	15	4,946,613 (GRCm39)	missense	probably damaging	1.00
R7797:Mroh2b	UTSW	15	4,978,587 (GRCm39)	missense	probably benign	0.36
R7848:Mroh2b	UTSW	15	4,967,861 (GRCm39)	nonsense	probably null
R7952:Mroh2b	UTSW	15	4,980,693 (GRCm39)	missense	probably damaging	1.00
R7995:Mroh2b	UTSW	15	4,950,839 (GRCm39)	nonsense	probably null
R8088:Mroh2b	UTSW	15	4,929,985 (GRCm39)	missense	possibly damaging	0.57
R8207:Mroh2b	UTSW	15	4,967,892 (GRCm39)	missense	possibly damaging	0.95
R8242:Mroh2b	UTSW	15	4,938,522 (GRCm39)	missense	probably benign	0.04
R8248:Mroh2b	UTSW	15	4,960,586 (GRCm39)	missense	probably benign	0.40
R8258:Mroh2b	UTSW	15	4,941,391 (GRCm39)	missense	probably benign	0.01
R8259:Mroh2b	UTSW	15	4,941,391 (GRCm39)	missense	probably benign	0.01
R8304:Mroh2b	UTSW	15	4,955,119 (GRCm39)	missense	probably damaging	0.99
R8316:Mroh2b	UTSW	15	4,980,746 (GRCm39)	nonsense	probably null
R8345:Mroh2b	UTSW	15	4,973,808 (GRCm39)	missense	probably benign	0.09
R8507:Mroh2b	UTSW	15	4,978,572 (GRCm39)	missense	probably damaging	1.00
R8728:Mroh2b	UTSW	15	4,935,122 (GRCm39)	missense	probably damaging	1.00
R8747:Mroh2b	UTSW	15	4,964,782 (GRCm39)	missense	probably damaging	0.99
R8798:Mroh2b	UTSW	15	4,978,191 (GRCm39)	missense	probably damaging	1.00
R8814:Mroh2b	UTSW	15	4,971,107 (GRCm39)	missense	possibly damaging	0.61
R8856:Mroh2b	UTSW	15	4,960,510 (GRCm39)	nonsense	probably null
R8910:Mroh2b	UTSW	15	4,960,855 (GRCm39)	missense	probably benign	0.01
R8913:Mroh2b	UTSW	15	4,947,010 (GRCm39)	intron	probably benign
R8941:Mroh2b	UTSW	15	4,991,606 (GRCm39)	missense	possibly damaging	0.86
R9014:Mroh2b	UTSW	15	4,928,670 (GRCm39)	start codon destroyed	probably null	0.95
R9086:Mroh2b	UTSW	15	4,982,754 (GRCm39)	critical splice acceptor site	probably null
R9101:Mroh2b	UTSW	15	4,929,935 (GRCm39)	missense	probably benign	0.20
R9118:Mroh2b	UTSW	15	4,991,573 (GRCm39)	missense	possibly damaging	0.86
R9393:Mroh2b	UTSW	15	4,980,666 (GRCm39)	missense	probably benign
R9429:Mroh2b	UTSW	15	4,963,907 (GRCm39)	missense	probably damaging	1.00
R9431:Mroh2b	UTSW	15	4,963,952 (GRCm39)	missense	probably damaging	1.00
R9443:Mroh2b	UTSW	15	4,973,821 (GRCm39)	missense	probably damaging	1.00
R9447:Mroh2b	UTSW	15	4,960,823 (GRCm39)	missense	probably damaging	1.00
R9497:Mroh2b	UTSW	15	4,950,845 (GRCm39)	missense	probably damaging	0.98
R9588:Mroh2b	UTSW	15	4,978,130 (GRCm39)	missense	probably benign	0.00
R9631:Mroh2b	UTSW	15	4,946,556 (GRCm39)	missense	probably damaging	0.97
R9686:Mroh2b	UTSW	15	4,974,605 (GRCm39)	missense	probably benign	0.34
R9774:Mroh2b	UTSW	15	4,943,613 (GRCm39)	missense	probably benign	0.08
X0067:Mroh2b	UTSW	15	4,981,073 (GRCm39)	missense	possibly damaging	0.90
Z1177:Mroh2b	UTSW	15	4,934,487 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGGTGTATTCAATGCATGC -3'
(R):5'- AGTCGGATGGGAAAACTCTTC -3'

Sequencing Primer
(F):5'- GCATGCTGTAATTTAACCTGTGATG -3'
(R):5'- CGGATGGGAAAACTCTTCGATTCC -3'

Posted On

2018-11-28