Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Mroh2b'

713770

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R9443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4898737-4962205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4944339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1113 (L1113P)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

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

AlphaFold

Q7M6Y6

Predicted Effect

probably damaging
Transcript: ENSMUST00000045736
AA Change: L1113P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: L1113P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	C	T	2: 148,847,958	E92K	probably damaging	Het
Adad1	T	C	3: 37,091,991	Y503H	probably benign	Het
Adck1	T	C	12: 88,371,780		probably null	Het
Afap1l1	T	C	18: 61,746,788	D337G	probably damaging	Het
Afg1l	G	A	10: 42,313,591	T448M	probably damaging	Het
Aqp6	T	C	15: 99,601,528	S41P		Het
Atad5	T	G	11: 80,132,562	V1500G	probably benign	Het
Btbd18	T	A	2: 84,667,180	D387E	probably benign	Het
Catsperd	A	G	17: 56,662,720	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,871,158	V102I	probably benign	Het
Cenpe	T	A	3: 135,270,848	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,615,107	D2249G		Het
Chrm1	A	T	19: 8,678,186	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,451,399	G465S	probably damaging	Het
Col7a1	G	A	9: 108,955,991	G262D	unknown	Het
Copg2	T	C	6: 30,750,579	T736A	probably benign	Het
Coro2b	T	C	9: 62,425,798	E435G	probably benign	Het
Cp	A	T	3: 19,978,919	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,126,672	F239L	probably damaging	Het
Cul2	T	A	18: 3,434,041	Y679*	probably null	Het
Dhx8	T	C	11: 101,764,914	Y1158H	probably damaging	Het
Eda	G	T	X: 99,976,169	R130L	unknown	Het
Elp6	T	A	9: 110,320,936	V265D	probably damaging	Het
Eomes	A	G	9: 118,484,572	T562A		Het
Fam187b	A	T	7: 30,977,642	E192V	probably damaging	Het
Foxi1	T	C	11: 34,205,671	T320A	probably benign	Het
Gga1	C	T	15: 78,881,047	T18I	possibly damaging	Het
Gm13128	T	A	4: 144,333,108	I463N	possibly damaging	Het
Gm34653	C	T	2: 34,838,611	Q141*	probably null	Het
Grik4	T	A	9: 42,659,741	M223L	probably benign	Het
Hdac7	T	C	15: 97,802,471	N594S	probably benign	Het
Ifnar1	C	T	16: 91,495,479	P207L	probably benign	Het
Itpr3	T	G	17: 27,105,549	F1235C	probably damaging	Het
Klhdc4	A	G	8: 121,797,026	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,310,047	S2933P	probably damaging	Het
Lama5	T	A	2: 180,201,729	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,080,850	L292P	possibly damaging	Het
Macf1	T	A	4: 123,471,875	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,256,700	S307R	probably damaging	Het
Mertk	T	C	2: 128,762,109	F388L	probably benign	Het
Mmp11	A	G	10: 75,926,899	F240S	probably damaging	Het
Mroh1	T	A	15: 76,434,764	F949I	probably damaging	Het
Ndufv1	C	A	19: 4,007,614	A454S	probably benign	Het
Olfr1176	T	A	2: 88,340,020	W152R	probably damaging	Het
Olfr663	T	C	7: 104,703,614	S16P	probably benign	Het
Olfr70	A	G	4: 43,696,591	L194P	probably damaging	Het
Osbpl1a	C	A	18: 12,898,187	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,197,580	R929L	probably damaging	Het
Phactr2	C	T	10: 13,247,097	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,317,350	Y670H	probably damaging	Het
Plbd1	T	A	6: 136,634,557	N241Y	probably damaging	Het
Pmvk	C	A	3: 89,467,649	Q139K	probably benign	Het
Rab3gap2	T	A	1: 185,235,326	C136S	probably damaging	Het
Rcor3	A	G	1: 192,101,750	V396A	probably damaging	Het
Rgs20	C	A	1: 4,912,406	E147*	probably null	Het
Rnf167	G	T	11: 70,649,951	L170F	probably damaging	Het
Scn9a	T	C	2: 66,565,209	T164A	probably damaging	Het
Slc52a3	A	T	2: 152,004,379	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364	M146L		Het
Svep1	C	T	4: 58,179,697	R182H	possibly damaging	Het
Taar7f	A	G	10: 24,050,413	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,768,369	I17V	probably benign	Het
Traf1	T	C	2: 34,946,736	T270A	probably benign	Het
Trpm5	C	T	7: 143,085,123	E304K	probably benign	Het
Ttc37	A	G	13: 76,118,169	Q210R	probably benign	Het
Ttll8	T	C	15: 88,925,660	D311G	possibly damaging	Het
Unc79	T	A	12: 103,070,776	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,047,293	C722*	probably null	Het
Wdr7	A	G	18: 63,720,336	T36A	probably damaging	Het
Ybx2	C	T	11: 69,940,362	P261L		Het
Zfp101	C	T	17: 33,382,444	V113I	probably benign	Het
Zfp260	T	C	7: 30,104,824	S50P	probably benign	Het
Zfp319	A	T	8: 95,328,294	F427Y	probably benign	Het
Zfp369	T	C	13: 65,296,533	S497P	possibly damaging	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
R1605:Mroh2b	UTSW	15	4945090	missense	probably benign	0.08
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
R8728:Mroh2b	UTSW	15	4905640	missense	probably damaging	1.00
R8747:Mroh2b	UTSW	15	4935300	missense	probably damaging	0.99
R8798:Mroh2b	UTSW	15	4948709	missense	probably damaging	1.00
R8814:Mroh2b	UTSW	15	4941625	missense	possibly damaging	0.61
R8856:Mroh2b	UTSW	15	4931028	nonsense	probably null
R8910:Mroh2b	UTSW	15	4931373	missense	probably benign	0.01
R8913:Mroh2b	UTSW	15	4917528	intron	probably benign
R8941:Mroh2b	UTSW	15	4962124	missense	possibly damaging	0.86
R9014:Mroh2b	UTSW	15	4899188	start codon destroyed	probably null	0.95
R9086:Mroh2b	UTSW	15	4953272	critical splice acceptor site	probably null
R9101:Mroh2b	UTSW	15	4900453	missense	probably benign	0.20
R9118:Mroh2b	UTSW	15	4962091	missense	possibly damaging	0.86
R9393:Mroh2b	UTSW	15	4951184	missense	probably benign
R9429:Mroh2b	UTSW	15	4934425	missense	probably damaging	1.00
R9431:Mroh2b	UTSW	15	4934470	missense	probably damaging	1.00
R9447:Mroh2b	UTSW	15	4931341	missense	probably damaging	1.00
R9497:Mroh2b	UTSW	15	4921363	missense	probably damaging	0.98
R9588:Mroh2b	UTSW	15	4948648	missense	not run
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'- GCCTTATGATACTGACATATCTGC -3'
(R):5'- CTGCTGCCACGTTTGTTCAG -3'

Sequencing Primer
(F):5'- TGATACTGACATATCTGCTTTTGC -3'
(R):5'- AATGCTCCATTGGGAGCA -3'

Posted On

2022-06-15