Mutagenetix > Incidental Mutations

Incidental Mutation 'R6347:Mroh3'

520044

Institutional Source

Beutler Lab

Gene Symbol

Mroh3

Ensembl Gene

ENSMUSG00000087230

Gene Name

maestro heat-like repeat family member 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136181652-136212828 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 136200937 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168561] [ENSMUST00000212798]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166708

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

SMART Domains

Protein: ENSMUSP00000130772
Gene: ENSMUSG00000087230

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	126	669	2e-7	SMART
low complexity region	677	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

Predicted Effect

probably null
Transcript: ENSMUST00000212798

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.3%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	G	T	2: 173,527,915	R74L	possibly damaging	Het
Atat1	A	G	17: 35,910,029	F3L	probably damaging	Het
Atf7	T	A	15: 102,546,479	M285L	possibly damaging	Het
Bcl7b	T	C	5: 135,180,533	S95P	possibly damaging	Het
Cald1	A	C	6: 34,765,046	K453Q	probably damaging	Het
Cog4	A	T	8: 110,880,643	I580F	probably damaging	Het
Cpq	T	A	15: 33,290,186		probably null	Het
Csf2rb	G	A	15: 78,345,552	D440N	probably damaging	Het
Dst	A	G	1: 34,179,684		probably null	Het
Eif2b3	T	C	4: 117,044,566	V142A	probably benign	Het
Fat3	A	T	9: 15,998,372	N2111K	probably damaging	Het
Fbxo31	C	A	8: 121,578,459	E99D	possibly damaging	Het
Fgfr2	T	C	7: 130,261,757	E34G	probably damaging	Het
Flvcr2	T	C	12: 85,747,420	V190A	possibly damaging	Het
Herc2	T	C	7: 56,194,403		probably null	Het
Igkv3-2	A	C	6: 70,699,033	M109L	probably benign	Het
Il1f5	G	A	2: 24,279,714	A29T	probably damaging	Het
Kif13b	C	T	14: 64,767,619	T1120I	probably benign	Het
Kmt2c	A	G	5: 25,310,835	I2670T	possibly damaging	Het
Lcp2	A	G	11: 34,082,501	M360V	probably benign	Het
Ldlrad4	A	G	18: 68,235,780	S103G	probably benign	Het
Loxl4	T	C	19: 42,608,270	K88E	probably damaging	Het
Ltbp2	C	A	12: 84,853,912	R192L	probably damaging	Het
Mast2	C	A	4: 116,317,732	G475V	probably damaging	Het
Meis1	A	C	11: 18,905,631		probably null	Het
Myo5b	C	T	18: 74,770,385	A1824V	probably benign	Het
Nectin3	C	T	16: 46,458,124	V303M	probably benign	Het
Olfr472	T	C	7: 107,902,950	S78P	possibly damaging	Het
Peak1	T	C	9: 56,258,211	N811S	probably benign	Het
Pik3ca	C	T	3: 32,462,821	A1066V	probably benign	Het
Rnf103	A	G	6: 71,505,824	T153A	possibly damaging	Het
Sacs	G	A	14: 61,211,160	V3552I	probably damaging	Het
Sgca	A	T	11: 94,972,028	N109K	probably damaging	Het
Speg	T	A	1: 75,426,875	M2621K	probably benign	Het
Stfa2l1	T	C	16: 36,156,901	I22T	probably damaging	Het
Tbpl2	G	A	2: 24,094,703	P144L	probably benign	Het
Tmem219	T	C	7: 126,896,826	N119S	possibly damaging	Het
Ush2a	A	G	1: 188,910,887	T4149A	probably benign	Het
Wdr46	C	A	17: 33,941,852	P197T	probably damaging	Het
Wee2	C	T	6: 40,455,105	R203C	probably damaging	Het

Other mutations in Mroh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0087:Mroh3	UTSW	1	136190803	missense	probably benign	0.00
R0507:Mroh3	UTSW	1	136190980	missense	probably damaging	1.00
R0638:Mroh3	UTSW	1	136191002	missense	probably damaging	1.00
R0742:Mroh3	UTSW	1	136190980	missense	probably damaging	1.00
R1728:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1729:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1730:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1739:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1762:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1783:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1784:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1785:Mroh3	UTSW	1	136192144	missense	possibly damaging	0.80
R1862:Mroh3	UTSW	1	136185988	missense	probably benign	0.01
R1883:Mroh3	UTSW	1	136206993	missense	probably damaging	1.00
R2166:Mroh3	UTSW	1	136186053	missense	probably benign	0.03
R2566:Mroh3	UTSW	1	136198126	missense	probably damaging	1.00
R3713:Mroh3	UTSW	1	136185976	missense	probably benign	0.01
R3788:Mroh3	UTSW	1	136185475	missense	probably damaging	1.00
R4672:Mroh3	UTSW	1	136190975	missense	probably benign	0.09
R4747:Mroh3	UTSW	1	136185499	missense	probably benign	0.00
R4855:Mroh3	UTSW	1	136200939	critical splice donor site	probably null
R5171:Mroh3	UTSW	1	136191656	missense	possibly damaging	0.82
R5296:Mroh3	UTSW	1	136196323	missense	probably damaging	0.98
R5869:Mroh3	UTSW	1	136186123	missense	probably benign
R6531:Mroh3	UTSW	1	136184353	missense	probably benign	0.01
R6675:Mroh3	UTSW	1	136190812	missense	possibly damaging	0.65
R7015:Mroh3	UTSW	1	136183331	missense	probably damaging	1.00
R7587:Mroh3	UTSW	1	136190998	missense	probably benign	0.09
R7657:Mroh3	UTSW	1	136181794	missense	possibly damaging	0.92
Z1177:Mroh3	UTSW	1	136192136	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TTATTAGGCCCAGGACAAACC -3'
(R):5'- AAGTTCGCTGTAGCTTCCTC -3'

Sequencing Primer
(F):5'- CCCAAGAACAAATTGAGCTTCTTG -3'
(R):5'- CCTTCTGATTGTCCAGCTAGG -3'

Posted On

2018-06-06