Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Mroh2a'

261804

Institutional Source

Beutler Lab

Gene Symbol

Mroh2a

Ensembl Gene

ENSMUSG00000079429

Gene Name

maestro heat-like repeat family member 2A

Synonyms

Heatr7b1, ENSMUSG00000044873, OTTMUSG00000020804

MMRRC Submission

038424-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R0139 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88226986-88262289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 88257802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1510 (E1510D)

Ref Sequence

ENSEMBL: ENSMUSP00000108755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054674] [ENSMUST00000061013] [ENSMUST00000113130] [ENSMUST00000135948]

AlphaFold

D3Z750

Predicted Effect

probably benign
Transcript: ENSMUST00000054674

SMART Domains

Protein: ENSMUSP00000054263
Gene: ENSMUSG00000044783

Domain	Start	End	E-Value	Type
Pfam:Scm3	11	68	1.5e-10	PFAM
low complexity region	159	175	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
Pfam:HJURP_mid	254	370	7.6e-54	PFAM
Pfam:HJURP_C	385	446	3.1e-26	PFAM
low complexity region	496	515	N/A	INTRINSIC
Pfam:HJURP_C	527	585	7.1e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000061013
AA Change: E1518D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429
AA Change: E1518D

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC
low complexity region	1235	1248	N/A	INTRINSIC
SCOP:d1jdha_	1371	1669	9e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113130
AA Change: E1510D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429
AA Change: E1510D

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC
low complexity region	1232	1245	N/A	INTRINSIC
SCOP:d1gw5a_	1446	1671	6e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135948
AA Change: E15D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118971
Gene: ENSMUSG00000079429
AA Change: E15D

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	15	174	5e-6	SMART

Meta Mutation Damage Score

0.1363

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,214		probably benign	Het
2010111I01Rik	A	G	13: 63,190,484	N558S	probably benign	Het
A230072I06Rik	C	T	8: 12,279,899	S118L	unknown	Het
Adprhl2	A	G	4: 126,318,154	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,386,138	S544P	probably benign	Het
Arhgef7	A	G	8: 11,800,503	E111G	probably damaging	Het
Atp11a	A	G	8: 12,846,054	M755V	probably benign	Het
Atp2a2	A	G	5: 122,491,715	I97T	probably damaging	Het
Bmp3	G	A	5: 98,879,909	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,278,269		probably benign	Het
Ccdc28a	G	A	10: 18,230,440	S46F	possibly damaging	Het
Ccdc36	T	C	9: 108,412,496	T176A	probably damaging	Het
Ccdc40	G	A	11: 119,264,299	G1122S	probably benign	Het
Cenpw	T	G	10: 30,200,459	T8P	probably benign	Het
Cfap44	G	C	16: 44,433,422	G893R	possibly damaging	Het
Cops7a	A	T	6: 124,961,360	C110S	probably damaging	Het
Cstl1	A	G	2: 148,755,325	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,811,689		probably null	Het
Dio2	T	A	12: 90,729,843	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,154,526	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,845,981	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,149,653	H162P	probably damaging	Het
Exoc5	C	T	14: 49,036,036	E301K	probably damaging	Het
F13b	G	A	1: 139,508,203	S249N	probably damaging	Het
Fam120b	C	T	17: 15,426,184		probably benign	Het
Gbf1	T	C	19: 46,261,792	L396S	probably damaging	Het
Gck	T	A	11: 5,909,139	K143*	probably null	Het
Gck	C	A	11: 5,910,370	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,660,810	N138S	probably damaging	Het
Gm17359	A	T	3: 79,405,835	Y72F	probably damaging	Het
Gm4884	T	C	7: 41,042,963	F119L	probably benign	Het
Igsf11	T	C	16: 39,008,878	S45P	probably damaging	Het
Il10	G	A	1: 131,022,534	V142M	probably damaging	Het
Insc	A	T	7: 114,769,002	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,809,758		probably benign	Het
Katnb1	A	G	8: 95,098,422	S611G	possibly damaging	Het
Kcnb1	A	G	2: 167,105,539	I463T	possibly damaging	Het
Lao1	A	G	4: 118,964,202	N90S	probably benign	Het
Med16	T	A	10: 79,896,801	M710L	probably benign	Het
Mtus1	G	A	8: 41,016,196		probably benign	Het
Mybpc3	A	G	2: 91,120,337		probably benign	Het
Ndor1	C	T	2: 25,248,354	V405M	possibly damaging	Het
Nell2	A	G	15: 95,432,901	V213A	probably benign	Het
Nme8	T	C	13: 19,677,848	I204V	probably benign	Het
Nup133	A	T	8: 123,929,343	N466K	probably benign	Het
Nxt1	A	G	2: 148,675,470	T44A	probably benign	Het
Olfr1303	A	T	2: 111,814,354	I124K	possibly damaging	Het
Olfr1382	C	T	11: 49,535,574	L130F	probably benign	Het
Olfr1508	T	C	14: 52,463,212	T239A	probably damaging	Het
Olfr310	T	C	7: 86,268,979	E270G	probably benign	Het
Olfr697	A	T	7: 106,741,625	I103N	probably benign	Het
Olfr859	C	T	9: 19,808,869	L184F	probably damaging	Het
Pced1a	T	C	2: 130,421,907	K275R	probably benign	Het
Pdcd11	A	G	19: 47,110,959		probably null	Het
Phldb2	A	C	16: 45,770,666		probably benign	Het
Pifo	A	T	3: 105,999,570	M171K	possibly damaging	Het
Piwil1	C	A	5: 128,747,323	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,163,675		probably benign	Het
Ppargc1b	A	T	18: 61,315,963		probably benign	Het
Psg19	C	T	7: 18,797,017	V71I	possibly damaging	Het
Ptk6	T	C	2: 181,196,931		probably benign	Het
Pus7	A	G	5: 23,778,092	S126P	probably damaging	Het
Rab6b	T	A	9: 103,140,377		probably null	Het
Ranbp3	G	A	17: 56,709,272	R347Q	possibly damaging	Het
Sbf1	A	T	15: 89,302,498	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,622,352	V164A	possibly damaging	Het
Smg1	A	G	7: 118,152,675		probably null	Het
Spin1	G	T	13: 51,149,012	V214L	probably benign	Het
Sptbn1	T	C	11: 30,142,289	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,029,795		noncoding transcript	Het
Taar7f	T	C	10: 24,050,414	I302T	probably benign	Het
Tdrd1	C	A	19: 56,843,198	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,067,801	D498G	probably benign	Het
Tpgs2	A	G	18: 25,149,185	L103P	probably damaging	Het
Trip10	A	G	17: 57,261,633		probably null	Het
Trip6	A	T	5: 137,312,174	H269Q	probably benign	Het
Trmt12	T	C	15: 58,872,894	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,812,771	S1416T	probably benign	Het
Tsks	G	A	7: 44,954,459	A438T	probably benign	Het
Ttn	T	C	2: 76,897,286		probably benign	Het
Twf2	G	A	9: 106,212,956	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223	Y115D	probably damaging	Het
Vcan	A	G	13: 89,691,261	S2055P	probably damaging	Het
Yes1	A	G	5: 32,684,695	Q521R	possibly damaging	Het
Zfp114	A	T	7: 24,181,260	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,578,612	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,770,470	Y430N	probably damaging	Het

Other mutations in Mroh2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Mroh2a	APN	1	88230746	missense	probably damaging	0.99
IGL00990:Mroh2a	APN	1	88244970	missense	probably benign	0.03
IGL00990:Mroh2a	APN	1	88234120	missense	possibly damaging	0.76
IGL03097:Mroh2a	UTSW	1	88235376	missense	probably benign	0.30
R0032:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0068:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0197:Mroh2a	UTSW	1	88246042	missense	probably damaging	1.00
R0242:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0322:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0374:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0387:Mroh2a	UTSW	1	88246042	missense	probably damaging	1.00
R0412:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01
R0536:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0548:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0580:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0581:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0583:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0613:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0652:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0657:Mroh2a	UTSW	1	88255565	missense	probably damaging	1.00
R0659:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0659:Mroh2a	UTSW	1	88250342	missense	probably damaging	1.00
R0671:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0675:Mroh2a	UTSW	1	88228380	missense	probably damaging	0.99
R0675:Mroh2a	UTSW	1	88250342	missense	probably damaging	1.00
R0689:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0689:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0735:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0761:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0766:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0845:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0853:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0959:Mroh2a	UTSW	1	88232257	frame shift	probably null
R0960:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R1004:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R1013:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R1028:Mroh2a	UTSW	1	88235376	missense	probably benign	0.30
R1268:Mroh2a	UTSW	1	88230680	nonsense	probably null
R1281:Mroh2a	UTSW	1	88256167	frame shift	probably null
R1414:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R1439:Mroh2a	UTSW	1	88257802	missense	probably damaging	1.00
R1441:Mroh2a	UTSW	1	88241631	missense	possibly damaging	0.93
R1442:Mroh2a	UTSW	1	88232353	splice site	probably benign
R1442:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R1465:Mroh2a	UTSW	1	88257802	missense	probably damaging	1.00
R1662:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R1686:Mroh2a	UTSW	1	88230680	nonsense	probably null
R1686:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R1780:Mroh2a	UTSW	1	88230680	nonsense	probably null
R1846:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R1899:Mroh2a	UTSW	1	88235376	missense	probably benign	0.30
R1958:Mroh2a	UTSW	1	88237491	nonsense	probably null
R2122:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R2248:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R2306:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R2869:Mroh2a	UTSW	1	88232257	frame shift	probably null
R2870:Mroh2a	UTSW	1	88232257	frame shift	probably null
R2871:Mroh2a	UTSW	1	88255565	missense	probably damaging	1.00
R2872:Mroh2a	UTSW	1	88232257	frame shift	probably null
R3408:Mroh2a	UTSW	1	88232257	frame shift	probably null
R3608:Mroh2a	UTSW	1	88244995	missense	probably damaging	1.00
R3730:Mroh2a	UTSW	1	88232257	frame shift	probably null
R3937:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4022:Mroh2a	UTSW	1	88246042	missense	probably damaging	1.00
R4049:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4133:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R4361:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R4392:Mroh2a	UTSW	1	88259589	missense	probably damaging	1.00
R4401:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4402:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4575:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4625:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R4631:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4665:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R4701:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R4701:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R4771:Mroh2a	UTSW	1	88251365	missense	probably damaging	1.00
R4795:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4839:Mroh2a	UTSW	1	88237944	missense	probably damaging	1.00
R4873:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4875:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4896:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R5007:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5031:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5062:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5301:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5367:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R5371:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5446:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R5484:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5506:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5561:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5615:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5825:Mroh2a	UTSW	1	88230680	nonsense	probably null
R5891:Mroh2a	UTSW	1	88241615	missense	possibly damaging	0.93
R5906:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5928:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R6004:Mroh2a	UTSW	1	88248655	missense	probably damaging	1.00
R6035:Mroh2a	UTSW	1	88230668	missense	probably damaging	1.00
R6064:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6074:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R6091:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6127:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R6234:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R6234:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R6244:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R6464:Mroh2a	UTSW	1	88257802	missense	probably damaging	1.00
R6465:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6575:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6809:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01
R6819:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R6854:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R6860:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R7126:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R7818:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R8350:Mroh2a	UTSW	1	88244083	splice site	probably null
R9414:Mroh2a	UTSW	1	88251374	missense	probably benign	0.26
RF024:Mroh2a	UTSW	1	88242485	missense	probably damaging	1.00
V5622:Mroh2a	UTSW	1	88227091	start gained	probably benign
V8831:Mroh2a	UTSW	1	88256167	frame shift	probably null
X0027:Mroh2a	UTSW	1	88248613	missense	possibly damaging	0.86
X0028:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0028:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0033:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0034:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0034:Mroh2a	UTSW	1	88232292	missense	probably damaging	1.00
X0034:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0039:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0057:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0057:Mroh2a	UTSW	1	88255655	missense	probably benign	0.25
X0057:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0063:Mroh2a	UTSW	1	88232257	frame shift	probably null
Z1188:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01
Z1190:Mroh2a	UTSW	1	88232257	frame shift	probably null
Z1192:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01

Predicted Primers

Posted On

2015-02-04