Mutagenetix > Incidental Mutation

Incidental Mutation 'R5484:Mroh2b'

430335

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

043045-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4928219-4991687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4938463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 251 (K251E)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

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

AlphaFold

Q7M6Y6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045736
AA Change: K251E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: K251E

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: ENSMUST00000226277

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,313,851 (GRCm39)	H609R	probably benign	Het
Abca6	A	T	11: 110,074,899 (GRCm39)	V1388E	probably damaging	Het
Alx1	T	A	10: 102,861,177 (GRCm39)	D117V	probably damaging	Het
Ascl4	T	C	10: 85,764,401 (GRCm39)	L16P	probably damaging	Het
Atp4a	G	A	7: 30,420,097 (GRCm39)		probably benign	Het
Btnl10	G	A	11: 58,814,651 (GRCm39)	V444M	probably damaging	Het
Camkv	A	T	9: 107,823,345 (GRCm39)	N124Y	probably damaging	Het
Catsperb	T	C	12: 101,542,175 (GRCm39)	L625P	probably benign	Het
Ccdc171	A	G	4: 83,612,199 (GRCm39)	I973V	probably benign	Het
Celsr1	T	C	15: 85,815,483 (GRCm39)	D1844G	probably benign	Het
Chd7	G	C	4: 8,828,258 (GRCm39)	K1066N	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Corin	T	C	5: 72,515,827 (GRCm39)	D409G	probably benign	Het
Cry1	T	C	10: 84,982,588 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,427,689 (GRCm39)		probably benign	Het
Cyrib	T	A	15: 63,815,056 (GRCm39)	T139S	probably damaging	Het
Dmxl1	T	A	18: 50,022,531 (GRCm39)	V1623E	probably damaging	Het
Dnah6	G	T	6: 73,069,099 (GRCm39)	D2477E	possibly damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dop1a	C	G	9: 86,427,341 (GRCm39)	R2164G	probably damaging	Het
Dsp	A	G	13: 38,368,014 (GRCm39)	T678A	possibly damaging	Het
Farsb	A	C	1: 78,452,833 (GRCm39)	I51S	probably damaging	Het
Gm10220	T	A	5: 26,322,930 (GRCm39)	I161L	possibly damaging	Het
Gm10782	G	T	13: 56,510,987 (GRCm39)		noncoding transcript	Het
Gm12830	A	T	4: 114,702,248 (GRCm39)	T137S	unknown	Het
Gopc	A	G	10: 52,234,942 (GRCm39)	L67P	probably damaging	Het
Hmcn1	T	C	1: 150,551,291 (GRCm39)	I2655V	probably benign	Het
Hmcn2	C	T	2: 31,283,066 (GRCm39)	Q1981*	probably null	Het
Ifi209	T	A	1: 173,468,640 (GRCm39)	S157T	probably benign	Het
Ift56	T	G	6: 38,366,057 (GRCm39)	C124W	probably benign	Het
Iqcf1	A	T	9: 106,379,107 (GRCm39)	I74F	probably damaging	Het
Irf3	A	T	7: 44,649,382 (GRCm39)	R78W	probably damaging	Het
Kank4	T	C	4: 98,663,022 (GRCm39)	D722G	probably benign	Het
Loxl1	A	G	9: 58,198,065 (GRCm39)	V597A	possibly damaging	Het
Marveld1	T	C	19: 42,136,272 (GRCm39)	L62P	probably damaging	Het
Mga	T	G	2: 119,747,107 (GRCm39)	D419E	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh4	A	G	11: 67,142,644 (GRCm39)	E935G	probably damaging	Het
Nat8f2	C	A	6: 85,844,994 (GRCm39)	A123S	possibly damaging	Het
Niban1	A	G	1: 151,593,837 (GRCm39)	T841A	probably benign	Het
Or4d11	G	A	19: 12,013,192 (GRCm39)	L305F	probably benign	Het
Pcdha9	T	A	18: 37,131,156 (GRCm39)	V75E	probably damaging	Het
Pebp4	A	T	14: 70,200,991 (GRCm39)		probably null	Het
Pitx1	A	G	13: 55,974,166 (GRCm39)	S222P	probably benign	Het
Plekhg3	G	A	12: 76,625,174 (GRCm39)	V1339M	possibly damaging	Het
Plekhs1	C	T	19: 56,468,260 (GRCm39)	S276L	possibly damaging	Het
Plin4	T	C	17: 56,411,932 (GRCm39)	T700A	possibly damaging	Het
Plxnb2	T	C	15: 89,048,412 (GRCm39)		probably null	Het
Pms2	T	C	5: 143,864,943 (GRCm39)	I675T	probably damaging	Het
Polrmt	A	G	10: 79,577,888 (GRCm39)	L268P	probably damaging	Het
Rtp1	A	G	16: 23,248,025 (GRCm39)	T33A	probably benign	Het
Safb2	T	C	17: 56,882,346 (GRCm39)		probably benign	Het
Sdk1	C	A	5: 142,085,941 (GRCm39)	P1383Q	probably damaging	Het
Setdb1	A	T	3: 95,244,569 (GRCm39)	C758S	probably damaging	Het
Sh3gl2	T	C	4: 85,317,160 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,295,648 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,278,631 (GRCm39)	Y126H	probably damaging	Het
Strip2	C	A	6: 29,917,154 (GRCm39)		probably benign	Het
Tbx4	A	G	11: 85,805,230 (GRCm39)	T440A	probably damaging	Het
Tcf7l2	C	A	19: 55,907,940 (GRCm39)		probably null	Het
Tgfb1	A	C	7: 25,387,574 (GRCm39)	D94A	probably benign	Het
Tmem132b	T	C	5: 125,864,797 (GRCm39)	C968R	probably damaging	Het
Tmem176b	T	A	6: 48,811,467 (GRCm39)	M61L	probably benign	Het
Tmem258	A	G	19: 10,184,689 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,302,639 (GRCm39)	L1379S	probably benign	Het
Vmn2r44	T	C	7: 8,383,123 (GRCm39)	D157G	possibly damaging	Het
Wfdc8	T	C	2: 164,439,649 (GRCm39)	I244M	probably benign	Het
Zfp341	T	C	2: 154,466,921 (GRCm39)	S97P	probably benign	Het
Zfp655	T	C	5: 145,180,445 (GRCm39)	V101A	probably benign	Het
Zfp788	T	C	7: 41,299,277 (GRCm39)	S586P	probably damaging	Het
Zfp874b	C	T	13: 67,629,373 (GRCm39)	V52I	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
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'- GTAAAGAACTGTCGTCCCGAGC -3'
(R):5'- CCTTTATTGGCGGTTCTGGAAC -3'

Sequencing Primer
(F):5'- GCTGGTGACATCAGAATCCCTATG -3'
(R):5'- ACTTTGCAGATCTGAATGAGGGC -3'

Posted On

2016-10-05