Mutagenetix > Incidental Mutation

Incidental Mutation 'R8248:Mroh2b'

640394

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

067675-MU

Accession Numbers

Essential gene?

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

Stock #

R8248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4928219-4991687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4960586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 773 (T773I)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

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

AlphaFold

Q7M6Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000045736
AA Change: T773I

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: T773I

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,556 (GRCm39)	D24G	noncoding transcript	Het
Adam32	A	G	8: 25,391,486 (GRCm39)	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Ahi1	T	A	10: 20,847,991 (GRCm39)	D466E	probably benign	Het
Ahnak	T	A	19: 8,979,310 (GRCm39)	V198E	probably damaging	Het
Ank2	T	A	3: 126,731,434 (GRCm39)	H658L	possibly damaging	Het
Atp8b5	T	A	4: 43,366,072 (GRCm39)	I781N	probably damaging	Het
Bloc1s6	A	T	2: 122,584,565 (GRCm39)	R47*	probably null	Het
Clk2	G	A	3: 89,080,811 (GRCm39)	V266M	probably damaging	Het
Cul9	A	C	17: 46,840,940 (GRCm39)	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,201,555 (GRCm39)		probably benign	Het
Dnajb2	T	G	1: 75,220,226 (GRCm39)	D248E		Het
Dpy19l1	T	C	9: 24,414,191 (GRCm39)	H79R	probably benign	Het
Elmo1	T	C	13: 20,784,371 (GRCm39)	S643P	probably damaging	Het
Evi5	A	G	5: 107,966,753 (GRCm39)		probably null	Het
Fam76b	T	C	9: 13,742,398 (GRCm39)	C110R	probably damaging	Het
Galnt7	T	A	8: 57,991,222 (GRCm39)	K429N	probably benign	Het
Gm10142	T	A	10: 77,551,950 (GRCm39)	C104S	probably damaging	Het
Gm7298	A	C	6: 121,764,402 (GRCm39)	H1427P	probably benign	Het
Golga7b	A	T	19: 42,255,310 (GRCm39)	I87F	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gpr25	C	A	1: 136,188,415 (GRCm39)	R66L	probably benign	Het
H2-Q2	A	G	17: 35,563,841 (GRCm39)	N241D	probably benign	Het
Il1a	T	C	2: 129,144,881 (GRCm39)	D179G	probably benign	Het
Itch	T	C	2: 155,048,303 (GRCm39)		probably null	Het
Itsn2	T	C	12: 4,712,052 (GRCm39)	V913A	probably benign	Het
Kdm1b	T	A	13: 47,225,354 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,937,375 (GRCm39)	I655T	possibly damaging	Het
Lats1	T	A	10: 7,581,667 (GRCm39)	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,755,733 (GRCm39)	M503L	probably benign	Het
Mast4	T	C	13: 102,875,229 (GRCm39)	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,336,976 (GRCm39)	T16K	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nudt7	A	G	8: 114,878,737 (GRCm39)	Y255C	probably benign	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,406,942 (GRCm39)	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,844,932 (GRCm39)	L24R	possibly damaging	Het
Pram1	T	C	17: 33,860,138 (GRCm39)	V235A	probably benign	Het
Prg4	T	C	1: 150,330,877 (GRCm39)	T599A	unknown	Het
Prpf40b	A	G	15: 99,214,166 (GRCm39)	K812E	unknown	Het
Qars1	G	A	9: 108,386,651 (GRCm39)	A155T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgs6	A	G	12: 83,184,478 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,906,045 (GRCm39)	R165W	probably damaging	Het
Rps6kb2	T	A	19: 4,206,987 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,768,546 (GRCm39)	W2808R	probably damaging	Het
Sh3gl1	A	G	17: 56,326,038 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,347,563 (GRCm39)	M279K	probably benign	Het
Snx11	A	G	11: 96,660,759 (GRCm39)	S184P	unknown	Het
Srgap1	A	G	10: 121,640,722 (GRCm39)	C692R	probably damaging	Het
Srgap3	T	C	6: 112,700,104 (GRCm39)	N982S	probably damaging	Het
Stac	T	A	9: 111,422,813 (GRCm39)	D270V	probably benign	Het
Syn3	T	A	10: 85,970,885 (GRCm39)	I246F	probably benign	Het
Tnr	T	C	1: 159,719,663 (GRCm39)	V980A	probably damaging	Het
Usp17le	G	T	7: 104,419,001 (GRCm39)	A47E	possibly damaging	Het
Vmn2r118	T	C	17: 55,917,936 (GRCm39)	N192S	probably benign	Het
Zmym4	C	A	4: 126,799,162 (GRCm39)	V725L	possibly damaging	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
R6990:Mroh2b	UTSW	15	4,942,284 (GRCm39)	missense	possibly damaging	0.55
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
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'- GCTACTGAGACCCTAGGTGAAG -3'
(R):5'- TTTCCAGCGAACAGGACTGG -3'

Sequencing Primer
(F):5'- TACTGAGACCCTAGGTGAAGAGTGG -3'
(R):5'- TCAGGGGTTCATCCTTTATCAAG -3'

Posted On

2020-07-28