Mutagenetix > Incidental Mutations

Incidental Mutation 'R5450:Mroh1'

429302

Institutional Source

Beutler Lab

Gene Symbol

Mroh1

Ensembl Gene

ENSMUSG00000022558

Gene Name

maestro heat-like repeat family member 1

Synonyms

Heatr7a, D330001F17Rik

MMRRC Submission

043015-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76380261-76453038 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 76432347 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000160631] [ENSMUST00000161305]

Predicted Effect

probably benign
Transcript: ENSMUST00000092595

SMART Domains

Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	4	435	4e-10	SMART
low complexity region	442	455	N/A	INTRINSIC
low complexity region	594	607	N/A	INTRINSIC
low complexity region	790	801	N/A	INTRINSIC
low complexity region	926	937	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096385

SMART Domains

Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558

Domain	Start	End	E-Value	Type
low complexity region	442	455	N/A	INTRINSIC
low complexity region	594	607	N/A	INTRINSIC
low complexity region	799	810	N/A	INTRINSIC
low complexity region	935	946	N/A	INTRINSIC
low complexity region	1191	1202	N/A	INTRINSIC
low complexity region	1355	1367	N/A	INTRINSIC
low complexity region	1488	1502	N/A	INTRINSIC
Pfam:HEAT	1610	1640	2.2e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160631

SMART Domains

Protein: ENSMUSP00000123806
Gene: ENSMUSG00000022558

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160986

Predicted Effect

probably benign
Transcript: ENSMUST00000161305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183412

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
AF067063	A	T	13: 119,828,363	V99E	probably damaging	Het
Arhgef4	T	G	1: 34,807,324		probably benign	Het
Atg14	T	C	14: 47,551,464	N144S	probably benign	Het
Cacna1h	A	T	17: 25,383,186	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,446,068	H138L	possibly damaging	Het
Ccdc129	T	A	6: 55,968,811		probably null	Het
Cd200r2	T	A	16: 44,909,571	D159E	probably benign	Het
Cd79a	G	T	7: 24,899,262	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,978,208	H38R	possibly damaging	Het
Cers1	T	C	8: 70,318,297	L119P	probably damaging	Het
Ces1f	C	A	8: 93,265,795	V343L	probably benign	Het
Ces3a	G	A	8: 105,057,918	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,284,252	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,339,876	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,528,886	T523A	probably benign	Het
Ddx31	T	C	2: 28,886,969	S567P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dsg1b	A	C	18: 20,409,064	H876P	probably damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Eno4	T	C	19: 58,960,247	F393S	possibly damaging	Het
Eral1	C	T	11: 78,078,357	D106N	probably benign	Het
Esp18	G	T	17: 39,408,179	R23M	probably benign	Het
Fam184b	C	T	5: 45,539,801	V674I	probably benign	Het
Fbxw13	A	C	9: 109,184,157	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,107,125	V130A	probably damaging	Het
Hc	T	C	2: 35,013,038	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,330,506	S6T	unknown	Het
Ikzf3	C	T	11: 98,467,086	R475H	probably damaging	Het
Kcmf1	A	T	6: 72,842,930	L311*	probably null	Het
Kmt2d	C	A	15: 98,855,086	E184D	probably damaging	Het
Lrguk	A	T	6: 34,071,061	I314F	probably damaging	Het
Maml2	A	C	9: 13,706,467	S370R	probably damaging	Het
Mx1	A	T	16: 97,454,147	Y235*	probably null	Het
Olfr1269	A	G	2: 90,118,669	*310Q	probably null	Het
Pamr1	T	G	2: 102,639,317	Y403D	probably damaging	Het
Panx2	A	G	15: 89,068,959	E551G	possibly damaging	Het
Patl2	A	G	2: 122,125,281	V258A	probably benign	Het
Ppm1m	A	G	9: 106,196,842	F255L	probably benign	Het
Prpf40a	G	T	2: 53,156,926	T266N	possibly damaging	Het
Psg18	T	A	7: 18,353,425	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,635,148		noncoding transcript	Het
Rps6kb1	A	T	11: 86,532,837	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Sardh	G	T	2: 27,239,698	T245K	possibly damaging	Het
Shprh	T	G	10: 11,212,330	I1619S	possibly damaging	Het
Skint1	G	A	4: 112,025,532	V258I	probably benign	Het
Slc27a5	T	C	7: 12,994,942	D331G	probably benign	Het
Slc29a2	A	G	19: 5,029,275	I309V	probably benign	Het
Slc30a5	C	T	13: 100,821,172	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,552,656	A531D	probably damaging	Het
Slc6a16	C	T	7: 45,261,248	T399I	probably benign	Het
Slitrk6	T	A	14: 110,750,097	H726L	probably benign	Het
Snx2	A	G	18: 53,210,712	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,373,219	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,796,907	V105A	probably benign	Het
Tmem8b	G	A	4: 43,673,992	V208I	probably benign	Het
Vmn1r47	T	C	6: 90,022,213	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,756,449	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,930,684	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,126,590	T504A	probably benign	Het
Wdr75	C	A	1: 45,812,164	A300E	probably benign	Het
Yars	A	G	4: 129,197,246	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,447,205	F35L	probably damaging	Het
Zfp366	A	G	13: 99,229,585	Y418C	probably damaging	Het

Other mutations in Mroh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Mroh1	APN	15	76432288	missense	probably benign	0.01
IGL02141:Mroh1	APN	15	76446599	missense	possibly damaging	0.47
IGL02146:Mroh1	APN	15	76434679	splice site	probably benign
IGL02205:Mroh1	APN	15	76437239	missense	possibly damaging	0.81
IGL02261:Mroh1	APN	15	76429160	missense	probably benign	0.03
IGL02818:Mroh1	APN	15	76432401	splice site	probably null
IGL02949:Mroh1	APN	15	76408968	missense	probably damaging	0.97
IGL02951:Mroh1	APN	15	76427636	missense	probably damaging	1.00
IGL03154:Mroh1	APN	15	76452838	missense	probably damaging	1.00
IGL02799:Mroh1	UTSW	15	76392461	critical splice donor site	probably null
R0068:Mroh1	UTSW	15	76446692	splice site	probably benign
R0068:Mroh1	UTSW	15	76446692	splice site	probably benign
R0076:Mroh1	UTSW	15	76451140	missense	probably benign	0.00
R0180:Mroh1	UTSW	15	76428250	missense	probably damaging	0.99
R0315:Mroh1	UTSW	15	76427600	missense	possibly damaging	0.94
R0350:Mroh1	UTSW	15	76432249	missense	probably damaging	0.98
R0399:Mroh1	UTSW	15	76452099	missense	probably benign	0.44
R0835:Mroh1	UTSW	15	76451883	missense	probably damaging	0.96
R0893:Mroh1	UTSW	15	76408938	missense	possibly damaging	0.62
R1109:Mroh1	UTSW	15	76446509	splice site	probably benign
R1527:Mroh1	UTSW	15	76452263	missense	probably benign	0.03
R1595:Mroh1	UTSW	15	76433530	splice site	probably benign
R1900:Mroh1	UTSW	15	76433385	missense	probably benign	0.00
R1901:Mroh1	UTSW	15	76436049	missense	probably benign
R2223:Mroh1	UTSW	15	76408045	critical splice donor site	probably null
R2415:Mroh1	UTSW	15	76421211	missense	probably damaging	0.99
R3113:Mroh1	UTSW	15	76408536	splice site	probably benign
R3437:Mroh1	UTSW	15	76433608	missense	possibly damaging	0.92
R3618:Mroh1	UTSW	15	76452346	missense	possibly damaging	0.55
R3833:Mroh1	UTSW	15	76401619	missense	probably benign	0.08
R4073:Mroh1	UTSW	15	76407985	missense	probably benign	0.13
R4156:Mroh1	UTSW	15	76402126	splice site	probably null
R4276:Mroh1	UTSW	15	76393851	missense	probably damaging	1.00
R4745:Mroh1	UTSW	15	76408530	critical splice donor site	probably null
R5574:Mroh1	UTSW	15	76433931	missense	probably benign
R5673:Mroh1	UTSW	15	76430181	missense	probably damaging	1.00
R5970:Mroh1	UTSW	15	76451491	missense	probably benign	0.24
R5993:Mroh1	UTSW	15	76446680	missense	probably damaging	0.99
R6008:Mroh1	UTSW	15	76451357	missense	possibly damaging	0.50
R6082:Mroh1	UTSW	15	76430223	missense	probably benign	0.06
R6302:Mroh1	UTSW	15	76436119	critical splice donor site	probably null
R7030:Mroh1	UTSW	15	76437317	missense	probably benign	0.01
R7098:Mroh1	UTSW	15	76408457	nonsense	probably null
R7334:Mroh1	UTSW	15	76427638	missense	probably benign	0.00
R7337:Mroh1	UTSW	15	76451476	missense	probably benign	0.00
R7352:Mroh1	UTSW	15	76451474	missense	probably benign	0.06
R7446:Mroh1	UTSW	15	76452272	missense	possibly damaging	0.93
R7453:Mroh1	UTSW	15	76433545	missense	probably damaging	1.00
R7669:Mroh1	UTSW	15	76451848	missense	possibly damaging	0.88
R7753:Mroh1	UTSW	15	76433275	missense	possibly damaging	0.62
R7860:Mroh1	UTSW	15	76447332	missense	probably benign	0.00
R7990:Mroh1	UTSW	15	76452275	missense	probably damaging	1.00
R8140:Mroh1	UTSW	15	76433873	missense	probably benign	0.00
R8325:Mroh1	UTSW	15	76432215	frame shift	probably null
R8334:Mroh1	UTSW	15	76446556	missense	probably benign
Z1177:Mroh1	UTSW	15	76423761	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCTCTACCTCAGGATCGAAGC -3'
(R):5'- GAGCTGTACTCCACCACACTTC -3'

Sequencing Primer
(F):5'- CTCAGGATCGAAGCGAGCAC -3'
(R):5'- TTCCCCAGGACCACCATGG -3'

Posted On

2016-09-06