Mutagenetix > Incidental Mutation

Incidental Mutation 'R3748:Mroh2b'

309941

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

040733-MU

Accession Numbers

Essential gene?

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

Stock #

R3748 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4928219-4991687 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 4981728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 1513 (W1513*)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

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

AlphaFold

Q7M6Y6

Predicted Effect

probably null
Transcript: ENSMUST00000045736
AA Change: W1513*

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: W1513*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228458

Meta Mutation Damage Score

0.9718

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,112,422 (GRCm39)		probably benign	Het
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abca13	T	C	11: 9,266,119 (GRCm39)		probably benign	Het
Acaca	A	G	11: 84,202,235 (GRCm39)		probably null	Het
Adam2	C	T	14: 66,297,361 (GRCm39)	V182I	probably benign	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Cfap68	A	G	9: 50,677,050 (GRCm39)	C14R	probably benign	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cmss1	T	C	16: 57,122,635 (GRCm39)	E253G	probably damaging	Het
Csmd1	T	G	8: 15,956,071 (GRCm39)	N3379H	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Daam1	C	A	12: 72,017,940 (GRCm39)	D716E	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Golgb1	G	C	16: 36,739,274 (GRCm39)	D2538H	probably benign	Het
Hoxc12	A	G	15: 102,846,813 (GRCm39)	E235G	probably damaging	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mfsd4b4	A	G	10: 39,770,132 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,184,461 (GRCm39)	W369R	probably damaging	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Or13a19	T	C	7: 139,903,041 (GRCm39)	L143P	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Tdh	T	C	14: 63,733,442 (GRCm39)	T149A	probably benign	Het
Tnip3	C	T	6: 65,591,747 (GRCm39)	L249F	probably damaging	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vmn2r27	T	C	6: 124,207,351 (GRCm39)	I97V	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	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
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
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'- ATGGCCATGACAACTTTCAGTC -3'
(R):5'- CAGGTAACACATTTCTTCCCAC -3'

Sequencing Primer
(F):5'- CAGTCAATTAATGTATGGCGATGG -3'
(R):5'- ACTGCCCCCGATGTCCATC -3'

Posted On

2015-04-17