Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Mroh1'

281537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mroh1

Ensembl Gene

ENSMUSG00000022558

Gene Name

maestro heat-like repeat family member 1

Synonyms

Heatr7a, D330001F17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

76380261-76453038 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76446599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1161 (S1161I)

Ref Sequence

ENSEMBL: ENSMUSP00000124811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096385] [ENSMUST00000159218]

AlphaFold

E0CZ22

Predicted Effect

probably benign
Transcript: ENSMUST00000096385
AA Change: S1170I

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: S1170I

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

possibly damaging
Transcript: ENSMUST00000159218
AA Change: S1161I

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: S1161I

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	790	801	N/A	INTRINSIC
low complexity region	926	937	N/A	INTRINSIC
low complexity region	1182	1193	N/A	INTRINSIC
low complexity region	1346	1358	N/A	INTRINSIC
low complexity region	1479	1493	N/A	INTRINSIC
Pfam:HEAT	1601	1631	1.3e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161962

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	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
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
R5450:Mroh1	UTSW	15	76432347	intron	probably benign
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
R8529:Mroh1	UTSW	15	76427632	missense	probably benign	0.00
R8544:Mroh1	UTSW	15	76443358	nonsense	probably null
R8688:Mroh1	UTSW	15	76428350	missense	probably benign	0.00
R8769:Mroh1	UTSW	15	76412926	missense	probably benign	0.00
R8782:Mroh1	UTSW	15	76414296	missense	possibly damaging	0.74
R8887:Mroh1	UTSW	15	76447274	missense	probably benign	0.43
R8934:Mroh1	UTSW	15	76450186	missense	probably benign	0.03
R9254:Mroh1	UTSW	15	76408015	missense	probably benign	0.16
R9400:Mroh1	UTSW	15	76451893	missense	possibly damaging	0.93
R9443:Mroh1	UTSW	15	76434764	missense	probably damaging	1.00
Z1177:Mroh1	UTSW	15	76423761	missense	probably damaging	1.00

Posted On

2015-04-16