Mutagenetix > Incidental Mutation

Incidental Mutation 'R7092:Mroh2b'

550315

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

045186-MU

Accession Numbers

Essential gene?

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

Stock #

R7092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4928219-4991687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4964160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 887 (N887K)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

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

AlphaFold

Q7M6Y6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045736
AA Change: N887K

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

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: N887K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (88/89)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,889,506 (GRCm39)	C37Y	probably benign	Het
A430005L14Rik	T	A	4: 154,045,451 (GRCm39)		probably null	Het
Aadacl2fm3	T	C	3: 59,768,500 (GRCm39)	F10S	probably benign	Het
Abca4	C	G	3: 121,932,218 (GRCm39)	P1499A	probably damaging	Het
Adcy8	T	C	15: 64,743,619 (GRCm39)	N330D	possibly damaging	Het
Arfgef1	A	G	1: 10,223,901 (GRCm39)	Y1466H	probably damaging	Het
Asz1	A	C	6: 18,071,818 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,011,546 (GRCm39)	N1307K	possibly damaging	Het
B4galnt4	C	A	7: 140,648,549 (GRCm39)	F688L	probably damaging	Het
Birc6	C	T	17: 74,953,740 (GRCm39)	T3349I	probably damaging	Het
Ccp110	C	A	7: 118,334,494 (GRCm39)	A989E	probably benign	Het
Ccser2	A	G	14: 36,662,612 (GRCm39)	S191P	probably benign	Het
Cdca2	A	G	14: 67,944,800 (GRCm39)		probably null	Het
Cdcp1	T	A	9: 123,012,678 (GRCm39)	T290S	probably benign	Het
Cep43	C	T	17: 8,391,802 (GRCm39)	P161S	probably benign	Het
Clec2m	T	A	6: 129,299,963 (GRCm39)	T172S	probably benign	Het
Cnnm1	T	C	19: 43,430,387 (GRCm39)	Y502H	probably damaging	Het
Cyba	T	G	8: 123,154,437 (GRCm39)	T29P	probably damaging	Het
Dcaf12	A	T	4: 41,301,366 (GRCm39)	I190N	probably damaging	Het
Depp1	C	A	6: 116,628,749 (GRCm39)	P31T	probably damaging	Het
Epha1	T	C	6: 42,341,179 (GRCm39)	T512A	probably benign	Het
Fancg	G	A	4: 43,004,831 (GRCm39)	P454L	probably benign	Het
Fasn	A	C	11: 120,710,946 (GRCm39)	V268G	possibly damaging	Het
Fip1l1	T	A	5: 74,697,504 (GRCm39)	L42Q	probably damaging	Het
Fjx1	A	G	2: 102,281,101 (GRCm39)	L278P	possibly damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fundc2b	T	A	3: 40,856,809 (GRCm39)	D22V	possibly damaging	Het
Gm1527	T	A	3: 28,968,696 (GRCm39)		probably null	Het
Gng3	T	A	19: 8,815,611 (GRCm39)	M42L	probably benign	Het
Gsdmc2	T	A	15: 63,696,947 (GRCm39)	Q408L	probably damaging	Het
Gtpbp3	T	A	8: 71,944,909 (GRCm39)	I388K	probably benign	Het
Hmcn1	A	T	1: 150,479,997 (GRCm39)	W4534R	probably damaging	Het
Inhca	G	A	9: 103,158,242 (GRCm39)	S106L	possibly damaging	Het
Ist1	A	T	8: 110,409,228 (GRCm39)		probably null	Het
Kifbp	C	A	10: 62,414,079 (GRCm39)	K26N	probably damaging	Het
Kyat3	T	C	3: 142,435,556 (GRCm39)	I276T	probably damaging	Het
Lipm	C	T	19: 34,098,758 (GRCm39)	P411S	possibly damaging	Het
Lipo3	T	C	19: 33,591,092 (GRCm39)		probably null	Het
Lrrc9	C	A	12: 72,510,238 (GRCm39)	Q446K	possibly damaging	Het
Mfsd4a	G	T	1: 131,995,401 (GRCm39)	T77N	probably benign	Het
Mmp1b	T	A	9: 7,386,981 (GRCm39)	D77V	probably damaging	Het
Mrgprb4	A	G	7: 47,847,984 (GRCm39)	S315P	probably benign	Het
Mto1	A	G	9: 78,377,955 (GRCm39)	K599R	probably benign	Het
Muc5ac	T	C	7: 141,363,385 (GRCm39)		probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mylk2	A	G	2: 152,757,110 (GRCm39)	N295S	probably benign	Het
Nr1i3	G	A	1: 171,041,747 (GRCm39)		probably null	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Odc1	G	A	12: 17,598,314 (GRCm39)	V152I	possibly damaging	Het
Or13a20	G	A	7: 140,232,150 (GRCm39)	G86D	probably benign	Het
Or1l4b	T	A	2: 37,036,623 (GRCm39)	M133K	probably damaging	Het
Or5m10b	A	T	2: 85,698,951 (GRCm39)	N5I	probably damaging	Het
Or7g16	G	A	9: 18,727,353 (GRCm39)	P79L	probably damaging	Het
Pde1b	G	T	15: 103,435,458 (GRCm39)	V438L	probably benign	Het
Pde4b	G	A	4: 102,459,048 (GRCm39)	V523M	probably damaging	Het
Pdgfc	C	T	3: 81,111,659 (GRCm39)	P205S	probably damaging	Het
Per2	A	G	1: 91,349,153 (GRCm39)	S1073P	probably damaging	Het
Plekhg5	C	T	4: 152,198,965 (GRCm39)	T1051I	probably damaging	Het
Ppme1	A	T	7: 100,021,029 (GRCm39)	M1K	probably null	Het
Prokr2	A	T	2: 132,223,236 (GRCm39)	V102D	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptprh	C	A	7: 4,583,860 (GRCm39)		probably null	Het
Rbsn	T	C	6: 92,166,607 (GRCm39)	N679S	probably damaging	Het
Rce1	T	C	19: 4,673,118 (GRCm39)	T303A	probably damaging	Het
Rnf123	C	A	9: 107,945,799 (GRCm39)	R329L	probably benign	Het
Robo2	T	A	16: 73,753,531 (GRCm39)	N782I	probably damaging	Het
Ror2	A	C	13: 53,264,272 (GRCm39)	V940G	probably benign	Het
Rpe65	C	T	3: 159,321,228 (GRCm39)	R347C	probably damaging	Het
Rrp8	A	T	7: 105,383,316 (GRCm39)	F317I	probably damaging	Het
Sidt1	A	G	16: 44,120,192 (GRCm39)	V163A	possibly damaging	Het
Sin3b	T	C	8: 73,474,498 (GRCm39)		probably null	Het
Slamf1	A	G	1: 171,604,757 (GRCm39)	T176A	probably benign	Het
Slc12a4	G	T	8: 106,671,855 (GRCm39)	A922D	probably damaging	Het
Slco1a5	T	A	6: 142,194,401 (GRCm39)	Q414L	probably benign	Het
Snx11	C	A	11: 96,663,665 (GRCm39)	R58L	probably damaging	Het
Sp9	A	G	2: 73,104,115 (GRCm39)	D223G	probably damaging	Het
Sptbn1	T	C	11: 30,087,119 (GRCm39)	I1107V	possibly damaging	Het
Stap2	T	C	17: 56,309,954 (GRCm39)	R66G	probably benign	Het
Synrg	T	G	11: 83,899,683 (GRCm39)	F552V	possibly damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Ttn	T	C	2: 76,733,760 (GRCm39)	D4505G	unknown	Het
Ubxn4	A	G	1: 128,179,959 (GRCm39)	I34M	probably benign	Het
Vac14	T	A	8: 111,442,128 (GRCm39)	M702K	probably damaging	Het
Vmn1r43	T	C	6: 89,846,885 (GRCm39)	I200M	probably benign	Het
Vmn2r108	T	A	17: 20,701,338 (GRCm39)	Y54F	probably benign	Het
Vps13b	T	C	15: 35,640,780 (GRCm39)	Y1382H	probably damaging	Het
Wdr72	T	C	9: 74,117,754 (GRCm39)	I834T	probably damaging	Het
Zfp970	T	A	2: 177,167,085 (GRCm39)	C220S	probably damaging	Het
Zkscan5	T	G	5: 145,156,899 (GRCm39)	I467S	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
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
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'- ATTGAAGTACGTGACTGGGGC -3'
(R):5'- ACATCCGGAGAAGCTGTTGG -3'

Sequencing Primer
(F):5'- GCCTGCGAAGAAAGACAAAGCTC -3'
(R):5'- TTGGGCAAAAAGGAATGTCTTTGC -3'

Posted On

2019-05-15