Mutagenetix > Incidental Mutation

Incidental Mutation 'R3750:Mroh2b'

310159

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

040735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R3750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4898737-4962205 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 4952246 bp (GRCm38)

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% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,753,577 (GRCm38)	T1178I	probably damaging	Het
Aasdh	C	A	5: 76,888,654 (GRCm38)	E347*	probably null	Het
Adam12	T	C	7: 134,172,865 (GRCm38)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,521,197 (GRCm38)	V256G	probably benign	Het
Ago1	A	G	4: 126,461,044 (GRCm38)	I125T	probably benign	Het
Bckdk	C	A	7: 127,905,418 (GRCm38)	R105S	probably damaging	Het
Bub1b	T	A	2: 118,615,455 (GRCm38)	N319K	possibly damaging	Het
Clcn6	G	T	4: 148,024,187 (GRCm38)	C128*	probably null	Het
Col6a4	C	A	9: 106,020,665 (GRCm38)		probably null	Het
Cyp4v3	G	A	8: 45,315,708 (GRCm38)	R272*	probably null	Het
Dlg5	G	A	14: 24,165,260 (GRCm38)	A665V	probably damaging	Het
Foxd1	G	C	13: 98,355,916 (GRCm38)	A433P	unknown	Het
Gm12800	T	A	4: 101,909,876 (GRCm38)	D107E	possibly damaging	Het
Hsd17b3	A	T	13: 64,063,179 (GRCm38)		probably null	Het
Kcnc4	A	G	3: 107,448,190 (GRCm38)	V314A	probably benign	Het
Lrba	T	G	3: 86,375,953 (GRCm38)	L1858R	probably damaging	Het
Marcks	G	A	10: 37,140,870 (GRCm38)		probably benign	Het
Nefh	A	G	11: 4,939,937 (GRCm38)	V894A	probably benign	Het
Pdzph1	A	T	17: 58,973,336 (GRCm38)	Y650*	probably null	Het
Plce1	A	C	19: 38,777,899 (GRCm38)	I2109L	probably benign	Het
Primpol	A	T	8: 46,599,813 (GRCm38)	D154E	probably benign	Het
Rtca	A	T	3: 116,493,001 (GRCm38)	F327L	probably benign	Het
Scn2a	T	G	2: 65,713,771 (GRCm38)	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737 (GRCm38)	G933D	possibly damaging	Het
Skil	A	G	3: 31,116,834 (GRCm38)	N354S	probably benign	Het
Slk	T	G	19: 47,619,809 (GRCm38)	D400E	possibly damaging	Het
Spata31	G	T	13: 64,921,743 (GRCm38)	L568F	probably benign	Het
Spon1	T	C	7: 113,766,384 (GRCm38)	L19P	probably damaging	Het
Spon1	T	A	7: 114,016,791 (GRCm38)	V297E	possibly damaging	Het
Tas2r136	A	T	6: 132,777,237 (GRCm38)	F309Y	probably damaging	Het
Tcp11l1	A	G	2: 104,698,542 (GRCm38)	I137T	probably damaging	Het
Ttn	G	A	2: 76,754,006 (GRCm38)	H22253Y	probably damaging	Het
Upf1	G	T	8: 70,333,350 (GRCm38)	N975K	possibly damaging	Het
Usp1	C	T	4: 98,934,120 (GRCm38)		probably null	Het
Zfhx4	G	A	3: 5,243,165 (GRCm38)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,212,047 (GRCm38)	P1069S	possibly damaging	Het

Other mutations in Mroh2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Mroh2b	APN	15	4,899,197 (GRCm38)	missense	probably benign
IGL00507:Mroh2b	APN	15	4,962,127 (GRCm38)	missense	probably damaging	1.00
IGL00548:Mroh2b	APN	15	4,931,316 (GRCm38)	missense	probably benign	0.35
IGL00902:Mroh2b	APN	15	4,915,222 (GRCm38)	missense	probably damaging	1.00
IGL00944:Mroh2b	APN	15	4,951,127 (GRCm38)	splice site	probably benign
IGL00954:Mroh2b	APN	15	4,903,054 (GRCm38)	missense	probably damaging	0.99
IGL01015:Mroh2b	APN	15	4,941,542 (GRCm38)	missense	probably damaging	1.00
IGL01134:Mroh2b	APN	15	4,915,152 (GRCm38)	missense	probably benign	0.00
IGL01337:Mroh2b	APN	15	4,905,024 (GRCm38)	missense	probably benign	0.38
IGL01780:Mroh2b	APN	15	4,912,000 (GRCm38)	missense	probably benign	0.01
IGL01919:Mroh2b	APN	15	4,923,688 (GRCm38)	missense	probably benign	0.10
IGL02069:Mroh2b	APN	15	4,904,324 (GRCm38)	splice site	probably benign
IGL02146:Mroh2b	APN	15	4,951,294 (GRCm38)	splice site	probably null
IGL02221:Mroh2b	APN	15	4,923,641 (GRCm38)	missense	probably damaging	1.00
IGL02281:Mroh2b	APN	15	4,952,263 (GRCm38)	missense	probably benign	0.04
IGL02350:Mroh2b	APN	15	4,912,000 (GRCm38)	missense	probably benign	0.01
IGL02357:Mroh2b	APN	15	4,912,000 (GRCm38)	missense	probably benign	0.01
IGL02401:Mroh2b	APN	15	4,900,501 (GRCm38)	missense	possibly damaging	0.71
IGL02427:Mroh2b	APN	15	4,951,560 (GRCm38)	splice site	probably benign
IGL02432:Mroh2b	APN	15	4,914,186 (GRCm38)	missense	probably benign
IGL02582:Mroh2b	APN	15	4,908,515 (GRCm38)	missense	probably damaging	0.98
IGL02632:Mroh2b	APN	15	4,931,101 (GRCm38)	missense	probably damaging	0.99
IGL02741:Mroh2b	APN	15	4,905,632 (GRCm38)	missense	probably benign
IGL02811:Mroh2b	APN	15	4,915,236 (GRCm38)	missense	possibly damaging	0.55
IGL02826:Mroh2b	APN	15	4,962,148 (GRCm38)	missense	probably damaging	0.99
IGL03412:Mroh2b	APN	15	4,944,372 (GRCm38)	missense	probably benign	0.14
PIT4468001:Mroh2b	UTSW	15	4,912,812 (GRCm38)	missense	probably damaging	1.00
R0024:Mroh2b	UTSW	15	4,925,627 (GRCm38)	missense	probably damaging	1.00
R0333:Mroh2b	UTSW	15	4,931,118 (GRCm38)	missense	probably damaging	1.00
R0433:Mroh2b	UTSW	15	4,941,634 (GRCm38)	missense	probably benign	0.01
R0530:Mroh2b	UTSW	15	4,934,395 (GRCm38)	missense	probably damaging	0.97
R1411:Mroh2b	UTSW	15	4,918,317 (GRCm38)	missense	probably damaging	1.00
R1457:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1472:Mroh2b	UTSW	15	4,948,655 (GRCm38)	missense	probably benign	0.00
R1525:Mroh2b	UTSW	15	4,951,130 (GRCm38)	splice site	probably null
R1584:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1605:Mroh2b	UTSW	15	4,945,090 (GRCm38)	missense	probably benign	0.08
R1657:Mroh2b	UTSW	15	4,931,043 (GRCm38)	nonsense	probably null
R1671:Mroh2b	UTSW	15	4,951,294 (GRCm38)	splice site	probably null
R1698:Mroh2b	UTSW	15	4,914,140 (GRCm38)	missense	probably benign	0.02
R2002:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R2005:Mroh2b	UTSW	15	4,917,158 (GRCm38)	missense	probably damaging	1.00
R2077:Mroh2b	UTSW	15	4,944,966 (GRCm38)	missense	probably damaging	1.00
R2179:Mroh2b	UTSW	15	4,921,446 (GRCm38)	critical splice donor site	probably null
R2183:Mroh2b	UTSW	15	4,918,225 (GRCm38)	splice site	probably null
R3713:Mroh2b	UTSW	15	4,943,649 (GRCm38)	missense	probably benign	0.01
R3714:Mroh2b	UTSW	15	4,943,649 (GRCm38)	missense	probably benign	0.01
R3747:Mroh2b	UTSW	15	4,952,246 (GRCm38)	nonsense	probably null
R3748:Mroh2b	UTSW	15	4,952,246 (GRCm38)	nonsense	probably null
R3749:Mroh2b	UTSW	15	4,952,246 (GRCm38)	nonsense	probably null
R3792:Mroh2b	UTSW	15	4,923,620 (GRCm38)	missense	probably damaging	1.00
R3872:Mroh2b	UTSW	15	4,925,061 (GRCm38)	nonsense	probably null
R4021:Mroh2b	UTSW	15	4,925,100 (GRCm38)	missense	possibly damaging	0.75
R4329:Mroh2b	UTSW	15	4,931,379 (GRCm38)	missense	probably damaging	0.99
R4456:Mroh2b	UTSW	15	4,947,925 (GRCm38)	missense	probably benign	0.21
R4592:Mroh2b	UTSW	15	4,918,290 (GRCm38)	missense	probably damaging	1.00
R4836:Mroh2b	UTSW	15	4,904,270 (GRCm38)	missense	probably damaging	1.00
R5050:Mroh2b	UTSW	15	4,900,450 (GRCm38)	missense	possibly damaging	0.82
R5230:Mroh2b	UTSW	15	4,941,522 (GRCm38)	missense	probably benign	0.07
R5342:Mroh2b	UTSW	15	4,914,133 (GRCm38)	nonsense	probably null
R5353:Mroh2b	UTSW	15	4,917,178 (GRCm38)	missense	probably damaging	1.00
R5368:Mroh2b	UTSW	15	4,905,572 (GRCm38)	missense	probably damaging	1.00
R5424:Mroh2b	UTSW	15	4,941,612 (GRCm38)	missense	probably damaging	0.98
R5484:Mroh2b	UTSW	15	4,908,981 (GRCm38)	missense	possibly damaging	0.92
R5999:Mroh2b	UTSW	15	4,912,884 (GRCm38)	splice site	probably null
R6046:Mroh2b	UTSW	15	4,951,281 (GRCm38)	missense	probably benign	0.01
R6081:Mroh2b	UTSW	15	4,944,377 (GRCm38)	missense	probably damaging	1.00
R6162:Mroh2b	UTSW	15	4,915,225 (GRCm38)	missense	probably damaging	1.00
R6165:Mroh2b	UTSW	15	4,918,350 (GRCm38)	missense	probably benign	0.23
R6240:Mroh2b	UTSW	15	4,934,644 (GRCm38)	missense	probably benign	0.38
R6487:Mroh2b	UTSW	15	4,947,239 (GRCm38)	missense	probably damaging	1.00
R6539:Mroh2b	UTSW	15	4,905,574 (GRCm38)	missense	probably damaging	1.00
R6616:Mroh2b	UTSW	15	4,953,282 (GRCm38)	missense	probably benign	0.36
R6663:Mroh2b	UTSW	15	4,947,935 (GRCm38)	missense	probably benign	0.21
R6820:Mroh2b	UTSW	15	4,953,274 (GRCm38)	missense	probably damaging	1.00
R6900:Mroh2b	UTSW	15	4,908,987 (GRCm38)	missense	probably benign	0.00
R6990:Mroh2b	UTSW	15	4,912,802 (GRCm38)	missense	possibly damaging	0.55
R7067:Mroh2b	UTSW	15	4,900,504 (GRCm38)	missense	probably benign	0.35
R7092:Mroh2b	UTSW	15	4,934,678 (GRCm38)	missense	possibly damaging	0.92
R7102:Mroh2b	UTSW	15	4,948,003 (GRCm38)	missense	probably benign	0.06
R7264:Mroh2b	UTSW	15	4,921,362 (GRCm38)	missense	possibly damaging	0.81
R7436:Mroh2b	UTSW	15	4,941,554 (GRCm38)	missense	probably benign	0.21
R7462:Mroh2b	UTSW	15	4,908,627 (GRCm38)	missense	probably damaging	1.00
R7529:Mroh2b	UTSW	15	4,949,009 (GRCm38)	missense	probably damaging	1.00
R7575:Mroh2b	UTSW	15	4,934,605 (GRCm38)	missense	probably damaging	1.00
R7579:Mroh2b	UTSW	15	4,931,061 (GRCm38)	missense	probably benign	0.09
R7605:Mroh2b	UTSW	15	4,945,023 (GRCm38)	missense	probably damaging	1.00
R7624:Mroh2b	UTSW	15	4,917,131 (GRCm38)	missense	probably damaging	1.00
R7797:Mroh2b	UTSW	15	4,949,105 (GRCm38)	missense	probably benign	0.36
R7848:Mroh2b	UTSW	15	4,938,379 (GRCm38)	nonsense	probably null
R7952:Mroh2b	UTSW	15	4,951,211 (GRCm38)	missense	probably damaging	1.00
R7995:Mroh2b	UTSW	15	4,921,357 (GRCm38)	nonsense	probably null
R8088:Mroh2b	UTSW	15	4,900,503 (GRCm38)	missense	possibly damaging	0.57
R8207:Mroh2b	UTSW	15	4,938,410 (GRCm38)	missense	possibly damaging	0.95
R8242:Mroh2b	UTSW	15	4,909,040 (GRCm38)	missense	probably benign	0.04
R8248:Mroh2b	UTSW	15	4,931,104 (GRCm38)	missense	probably benign	0.40
R8258:Mroh2b	UTSW	15	4,911,909 (GRCm38)	missense	probably benign	0.01
R8259:Mroh2b	UTSW	15	4,911,909 (GRCm38)	missense	probably benign	0.01
R8304:Mroh2b	UTSW	15	4,925,637 (GRCm38)	missense	probably damaging	0.99
R8316:Mroh2b	UTSW	15	4,951,264 (GRCm38)	nonsense	probably null
R8345:Mroh2b	UTSW	15	4,944,326 (GRCm38)	missense	probably benign	0.09
R8507:Mroh2b	UTSW	15	4,949,090 (GRCm38)	missense	probably damaging	1.00
R8728:Mroh2b	UTSW	15	4,905,640 (GRCm38)	missense	probably damaging	1.00
R8747:Mroh2b	UTSW	15	4,935,300 (GRCm38)	missense	probably damaging	0.99
R8798:Mroh2b	UTSW	15	4,948,709 (GRCm38)	missense	probably damaging	1.00
R8814:Mroh2b	UTSW	15	4,941,625 (GRCm38)	missense	possibly damaging	0.61
R8856:Mroh2b	UTSW	15	4,931,028 (GRCm38)	nonsense	probably null
R8910:Mroh2b	UTSW	15	4,931,373 (GRCm38)	missense	probably benign	0.01
R8913:Mroh2b	UTSW	15	4,917,528 (GRCm38)	intron	probably benign
R8941:Mroh2b	UTSW	15	4,962,124 (GRCm38)	missense	possibly damaging	0.86
R9014:Mroh2b	UTSW	15	4,899,188 (GRCm38)	start codon destroyed	probably null	0.95
R9086:Mroh2b	UTSW	15	4,953,272 (GRCm38)	critical splice acceptor site	probably null
R9101:Mroh2b	UTSW	15	4,900,453 (GRCm38)	missense	probably benign	0.20
R9118:Mroh2b	UTSW	15	4,962,091 (GRCm38)	missense	possibly damaging	0.86
R9393:Mroh2b	UTSW	15	4,951,184 (GRCm38)	missense	probably benign
R9429:Mroh2b	UTSW	15	4,934,425 (GRCm38)	missense	probably damaging	1.00
R9431:Mroh2b	UTSW	15	4,934,470 (GRCm38)	missense	probably damaging	1.00
R9443:Mroh2b	UTSW	15	4,944,339 (GRCm38)	missense	probably damaging	1.00
R9447:Mroh2b	UTSW	15	4,931,341 (GRCm38)	missense	probably damaging	1.00
R9497:Mroh2b	UTSW	15	4,921,363 (GRCm38)	missense	probably damaging	0.98
R9588:Mroh2b	UTSW	15	4,948,648 (GRCm38)	missense	probably benign	0.00
R9631:Mroh2b	UTSW	15	4,917,074 (GRCm38)	missense	probably damaging	0.97
R9686:Mroh2b	UTSW	15	4,945,123 (GRCm38)	missense	probably benign	0.34
R9774:Mroh2b	UTSW	15	4,914,131 (GRCm38)	missense	probably benign	0.08
X0067:Mroh2b	UTSW	15	4,951,591 (GRCm38)	missense	possibly damaging	0.90
Z1177:Mroh2b	UTSW	15	4,905,005 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCCATGACAACTTTCAGTC -3'
(R):5'- AGGTAACACATTTCTTCCCACTG -3'

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

Posted On

2015-04-17