Mutagenetix > Incidental Mutations

Incidental Mutation 'R1605:Mroh2b'

176434

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

039642-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4898737-4962205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4945090 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1184 (R1184H)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045736
AA Change: R1184H

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: R1184H

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	T	A	7: 4,151,396	H131L	probably benign	Het
1700123L14Rik	A	G	6: 96,164,812	M417T	probably benign	Het
4931408C20Rik	A	T	1: 26,684,430	H556Q	possibly damaging	Het
5730409E04Rik	A	G	4: 126,612,311	K211E	probably damaging	Het
Acot7	A	G	4: 152,206,828	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,828,622	V34A	probably benign	Het
Atp4b	A	T	8: 13,393,489	M63K	probably damaging	Het
Atr	T	A	9: 95,936,463	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,985,164	R34*	probably null	Het
Ccdc152	T	G	15: 3,298,121	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,850,469	Q912L	probably benign	Het
Chd7	G	A	4: 8,844,675	E1595K	probably damaging	Het
Col11a1	G	A	3: 114,131,641	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,686,418	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,255,570	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012	Y119C	probably benign	Het
Dysf	T	C	6: 84,106,941	L785P	probably damaging	Het
Eqtn	T	A	4: 94,928,350	T69S	possibly damaging	Het
F11	T	A	8: 45,241,580	K581N	probably damaging	Het
Gli2	G	A	1: 118,854,560	P172S	probably damaging	Het
Gm10093	A	G	17: 78,492,108	D176G	probably damaging	Het
Gm7579	G	T	7: 142,211,866	C3F	unknown	Het
Grin2a	A	G	16: 9,663,330	V501A	possibly damaging	Het
Grk4	G	A	5: 34,674,557	D57N	probably damaging	Het
Gsdma	A	T	11: 98,666,493	D86V	probably damaging	Het
Gsx1	A	G	5: 147,189,928	E187G	probably damaging	Het
Inpp5k	T	A	11: 75,633,481	F75L	probably benign	Het
Itpr1	T	C	6: 108,349,659	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,144,740	C130S	probably damaging	Het
Mei4	G	A	9: 81,927,586	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,824,584	V39A	probably benign	Het
Msh3	T	C	13: 92,300,275	Q509R	probably null	Het
Myh8	T	C	11: 67,301,671	W1459R	probably damaging	Het
Mypop	T	A	7: 19,000,993		probably benign	Het
Ndc1	C	A	4: 107,368,096	T3K	probably damaging	Het
Nf1	A	C	11: 79,440,923	M695L	probably benign	Het
Nutm2	C	A	13: 50,469,919	D217E	possibly damaging	Het
Olfr1484	A	G	19: 13,585,630	T109A	probably benign	Het
Olfr243	T	C	7: 103,716,651	I19T	probably damaging	Het
Pde6c	C	A	19: 38,141,492	D283E	probably damaging	Het
Phldb2	A	G	16: 45,770,779		probably benign	Het
Pigt	G	C	2: 164,507,499	R574P	probably damaging	Het
Pkd1	T	C	17: 24,577,526	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,839,306	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,865,512	I1140V	probably benign	Het
Rdx	T	C	9: 52,063,591	V9A	probably damaging	Het
Rfx7	T	C	9: 72,611,789	S258P	probably damaging	Het
Rnf17	G	T	14: 56,493,365	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,499,391		probably null	Het
Scml2	G	T	X: 161,231,446	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,093,663	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,038,129		probably null	Het
Sez6l	A	C	5: 112,475,049	I212S	probably damaging	Het
Son	T	C	16: 91,657,664	S1100P	probably damaging	Het
Spag9	G	A	11: 94,048,539	R98H	probably damaging	Het
St3gal5	T	C	6: 72,142,288	L128P	probably benign	Het
Stra6	A	T	9: 58,151,883	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,208,111	V530A	probably benign	Het
Tatdn1	A	G	15: 58,921,190		probably benign	Het
Tbc1d8	A	G	1: 39,391,125	S466P	probably benign	Het
Tmem199	A	T	11: 78,508,326	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,872,915	E54G	probably benign	Het
Usp37	G	T	1: 74,493,004	Q77K	possibly damaging	Het
Vezf1	A	G	11: 88,076,299	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,636,948	M269L	probably benign	Het
Wdr93	C	A	7: 79,771,509		probably null	Het
Wnk2	T	C	13: 49,060,894	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,337,483	R1591*	probably null	Het
Zfp131	G	A	13: 119,768,780	L371F	probably damaging	Het
Zfp180	T	A	7: 24,104,624	V156D	probably benign	Het
Zfp646	G	T	7: 127,880,187		probably null	Het
Zscan12	C	A	13: 21,366,643	T144K	probably benign	Het

Other mutations in Mroh2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Mroh2b	APN	15	4899197	missense	probably benign
IGL00507:Mroh2b	APN	15	4962127	missense	probably damaging	1.00
IGL00548:Mroh2b	APN	15	4931316	missense	probably benign	0.35
IGL00902:Mroh2b	APN	15	4915222	missense	probably damaging	1.00
IGL00944:Mroh2b	APN	15	4951127	splice site	probably benign
IGL00954:Mroh2b	APN	15	4903054	missense	probably damaging	0.99
IGL01015:Mroh2b	APN	15	4941542	missense	probably damaging	1.00
IGL01134:Mroh2b	APN	15	4915152	missense	probably benign	0.00
IGL01337:Mroh2b	APN	15	4905024	missense	probably benign	0.38
IGL01780:Mroh2b	APN	15	4912000	missense	probably benign	0.01
IGL01919:Mroh2b	APN	15	4923688	missense	probably benign	0.10
IGL02069:Mroh2b	APN	15	4904324	splice site	probably benign
IGL02146:Mroh2b	APN	15	4951294	splice site	probably null
IGL02221:Mroh2b	APN	15	4923641	missense	probably damaging	1.00
IGL02281:Mroh2b	APN	15	4952263	missense	probably benign	0.04
IGL02350:Mroh2b	APN	15	4912000	missense	probably benign	0.01
IGL02357:Mroh2b	APN	15	4912000	missense	probably benign	0.01
IGL02401:Mroh2b	APN	15	4900501	missense	possibly damaging	0.71
IGL02427:Mroh2b	APN	15	4951560	splice site	probably benign
IGL02432:Mroh2b	APN	15	4914186	missense	probably benign
IGL02582:Mroh2b	APN	15	4908515	missense	probably damaging	0.98
IGL02632:Mroh2b	APN	15	4931101	missense	probably damaging	0.99
IGL02741:Mroh2b	APN	15	4905632	missense	probably benign
IGL02811:Mroh2b	APN	15	4915236	missense	possibly damaging	0.55
IGL02826:Mroh2b	APN	15	4962148	missense	probably damaging	0.99
IGL03412:Mroh2b	APN	15	4944372	missense	probably benign	0.14
PIT4468001:Mroh2b	UTSW	15	4912812	missense	probably damaging	1.00
R0024:Mroh2b	UTSW	15	4925627	missense	probably damaging	1.00
R0333:Mroh2b	UTSW	15	4931118	missense	probably damaging	1.00
R0433:Mroh2b	UTSW	15	4941634	missense	probably benign	0.01
R0530:Mroh2b	UTSW	15	4934395	missense	probably damaging	0.97
R1411:Mroh2b	UTSW	15	4918317	missense	probably damaging	1.00
R1457:Mroh2b	UTSW	15	4925684	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4925684	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4925684	missense	probably damaging	1.00
R1472:Mroh2b	UTSW	15	4948655	missense	probably benign	0.00
R1525:Mroh2b	UTSW	15	4951130	splice site	probably null
R1584:Mroh2b	UTSW	15	4925684	missense	probably damaging	1.00
R1657:Mroh2b	UTSW	15	4931043	nonsense	probably null
R1671:Mroh2b	UTSW	15	4951294	splice site	probably null
R1698:Mroh2b	UTSW	15	4914140	missense	probably benign	0.02
R2002:Mroh2b	UTSW	15	4925684	missense	probably damaging	1.00
R2005:Mroh2b	UTSW	15	4917158	missense	probably damaging	1.00
R2077:Mroh2b	UTSW	15	4944966	missense	probably damaging	1.00
R2179:Mroh2b	UTSW	15	4921446	critical splice donor site	probably null
R2183:Mroh2b	UTSW	15	4918225	splice site	probably null
R3713:Mroh2b	UTSW	15	4943649	missense	probably benign	0.01
R3714:Mroh2b	UTSW	15	4943649	missense	probably benign	0.01
R3747:Mroh2b	UTSW	15	4952246	nonsense	probably null
R3748:Mroh2b	UTSW	15	4952246	nonsense	probably null
R3749:Mroh2b	UTSW	15	4952246	nonsense	probably null
R3750:Mroh2b	UTSW	15	4952246	nonsense	probably null
R3792:Mroh2b	UTSW	15	4923620	missense	probably damaging	1.00
R3872:Mroh2b	UTSW	15	4925061	nonsense	probably null
R4021:Mroh2b	UTSW	15	4925100	missense	possibly damaging	0.75
R4329:Mroh2b	UTSW	15	4931379	missense	probably damaging	0.99
R4456:Mroh2b	UTSW	15	4947925	missense	probably benign	0.21
R4592:Mroh2b	UTSW	15	4918290	missense	probably damaging	1.00
R4836:Mroh2b	UTSW	15	4904270	missense	probably damaging	1.00
R5050:Mroh2b	UTSW	15	4900450	missense	possibly damaging	0.82
R5230:Mroh2b	UTSW	15	4941522	missense	probably benign	0.07
R5342:Mroh2b	UTSW	15	4914133	nonsense	probably null
R5353:Mroh2b	UTSW	15	4917178	missense	probably damaging	1.00
R5368:Mroh2b	UTSW	15	4905572	missense	probably damaging	1.00
R5424:Mroh2b	UTSW	15	4941612	missense	probably damaging	0.98
R5484:Mroh2b	UTSW	15	4908981	missense	possibly damaging	0.92
R5999:Mroh2b	UTSW	15	4912884	splice site	probably null
R6046:Mroh2b	UTSW	15	4951281	missense	probably benign	0.01
R6081:Mroh2b	UTSW	15	4944377	missense	probably damaging	1.00
R6162:Mroh2b	UTSW	15	4915225	missense	probably damaging	1.00
R6165:Mroh2b	UTSW	15	4918350	missense	probably benign	0.23
R6240:Mroh2b	UTSW	15	4934644	missense	probably benign	0.38
R6487:Mroh2b	UTSW	15	4947239	missense	probably damaging	1.00
R6539:Mroh2b	UTSW	15	4905574	missense	probably damaging	1.00
R6616:Mroh2b	UTSW	15	4953282	missense	probably benign	0.36
R6663:Mroh2b	UTSW	15	4947935	missense	probably benign	0.21
R6820:Mroh2b	UTSW	15	4953274	missense	probably damaging	1.00
R6900:Mroh2b	UTSW	15	4908987	missense	probably benign	0.00
R6990:Mroh2b	UTSW	15	4912802	missense	possibly damaging	0.55
R7067:Mroh2b	UTSW	15	4900504	missense	probably benign	0.35
R7092:Mroh2b	UTSW	15	4934678	missense	possibly damaging	0.92
R7102:Mroh2b	UTSW	15	4948003	missense	probably benign	0.06
R7264:Mroh2b	UTSW	15	4921362	missense	possibly damaging	0.81
R7436:Mroh2b	UTSW	15	4941554	missense	probably benign	0.21
R7462:Mroh2b	UTSW	15	4908627	missense	probably damaging	1.00
R7529:Mroh2b	UTSW	15	4949009	missense	probably damaging	1.00
R7575:Mroh2b	UTSW	15	4934605	missense	probably damaging	1.00
R7579:Mroh2b	UTSW	15	4931061	missense	probably benign	0.09
R7605:Mroh2b	UTSW	15	4945023	missense	probably damaging	1.00
R7624:Mroh2b	UTSW	15	4917131	missense	probably damaging	1.00
R7797:Mroh2b	UTSW	15	4949105	missense	probably benign	0.36
R7848:Mroh2b	UTSW	15	4938379	nonsense	probably null
R7952:Mroh2b	UTSW	15	4951211	missense	probably damaging	1.00
R7995:Mroh2b	UTSW	15	4921357	nonsense	probably null
R8088:Mroh2b	UTSW	15	4900503	missense	possibly damaging	0.57
R8207:Mroh2b	UTSW	15	4938410	missense	possibly damaging	0.95
R8242:Mroh2b	UTSW	15	4909040	missense	probably benign	0.04
R8248:Mroh2b	UTSW	15	4931104	missense	probably benign	0.40
R8258:Mroh2b	UTSW	15	4911909	missense	probably benign	0.01
R8259:Mroh2b	UTSW	15	4911909	missense	probably benign	0.01
R8304:Mroh2b	UTSW	15	4925637	missense	probably damaging	0.99
R8316:Mroh2b	UTSW	15	4951264	nonsense	probably null
R8345:Mroh2b	UTSW	15	4944326	missense	probably benign	0.09
R8507:Mroh2b	UTSW	15	4949090	missense	probably damaging	1.00
X0067:Mroh2b	UTSW	15	4951591	missense	possibly damaging	0.90
Z1177:Mroh2b	UTSW	15	4905005	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTAAGAAACGCAGCCTGTTGAG -3'
(R):5'- GTCACGGTTAAAGGATGCCAAAGC -3'

Sequencing Primer
(F):5'- CAAGCTTCTGTAACAACCTAGTGG -3'
(R):5'- GATGCCAAAGCCTTGTTTGTTC -3'

Posted On

2014-04-24