Mutagenetix > Incidental Mutation

Incidental Mutation 'R9059:Mroh3'

688853

Institutional Source

Beutler Lab

Gene Symbol

Mroh3

Ensembl Gene

ENSMUSG00000087230

Gene Name

maestro heat-like repeat family member 3

Synonyms

MMRRC Submission

068885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136181652-136212828 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136181795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 891 (R891S)

Ref Sequence

ENSEMBL: ENSMUSP00000148632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075164] [ENSMUST00000130864] [ENSMUST00000168561] [ENSMUST00000212798]

AlphaFold

A0A1D5RM54

Predicted Effect

probably benign
Transcript: ENSMUST00000075164

SMART Domains

Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642

Domain	Start	End	E-Value	Type
KISc	6	379	6.39e-159	SMART
Blast:KISc	469	543	1e-14	BLAST
low complexity region	578	628	N/A	INTRINSIC
coiled coil region	632	825	N/A	INTRINSIC
low complexity region	847	866	N/A	INTRINSIC
coiled coil region	931	991	N/A	INTRINSIC
low complexity region	1109	1123	N/A	INTRINSIC
low complexity region	1239	1249	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
WD40	1299	1336	2.89e-5	SMART
WD40	1339	1377	5.69e-4	SMART
WD40	1404	1441	6.42e-1	SMART
WD40	1444	1486	1.5e-3	SMART
WD40	1494	1532	4.8e-2	SMART
WD40	1535	1575	1.55e-5	SMART
WD40	1578	1615	3.81e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130864

SMART Domains

Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642

Domain	Start	End	E-Value	Type
KISc	6	379	6.39e-159	SMART
Blast:KISc	469	543	1e-14	BLAST
low complexity region	578	628	N/A	INTRINSIC
coiled coil region	632	825	N/A	INTRINSIC
low complexity region	847	866	N/A	INTRINSIC
coiled coil region	931	991	N/A	INTRINSIC
low complexity region	1109	1123	N/A	INTRINSIC
low complexity region	1239	1249	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
WD40	1299	1336	2.89e-5	SMART
WD40	1339	1377	5.69e-4	SMART
WD40	1404	1441	6.42e-1	SMART
WD40	1444	1486	1.5e-3	SMART
WD40	1494	1532	4.8e-2	SMART
WD40	1535	1575	1.55e-5	SMART
WD40	1578	1615	5.1e-6	SMART

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 benign
Transcript: ENSMUST00000212798
AA Change: R891S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,074,731	D48E	probably benign	Het
Ablim2	A	G	5: 35,802,506	T101A	probably damaging	Het
Acot8	A	G	2: 164,792,909	S316P	probably benign	Het
Acta2	G	T	19: 34,241,755	A349D	possibly damaging	Het
Adgrv1	C	A	13: 81,414,573		probably null	Het
Ankrd55	A	G	13: 112,318,539	D57G	probably damaging	Het
Azin2	A	G	4: 128,934,647	Y351H	probably benign	Het
Ccdc142	T	C	6: 83,102,419	C246R	probably damaging	Het
Col25a1	C	A	3: 130,474,850	Q179K	unknown	Het
Ddx46	C	T	13: 55,652,108	A277V	probably benign	Het
Diaph1	T	A	18: 37,889,745	N792I	possibly damaging	Het
Dnah11	G	A	12: 118,130,843	P830L	probably benign	Het
Dnah3	C	G	7: 120,085,145	R252S	probably benign	Het
Dnah5	A	G	15: 28,245,666	D550G	probably benign	Het
Dph3	T	C	14: 32,085,427	N31D	probably benign	Het
Dsg1c	A	T	18: 20,275,249	T452S	probably damaging	Het
Dsg4	T	A	18: 20,471,125	M883K	possibly damaging	Het
Epn1	T	G	7: 5,095,068	S293A	probably benign	Het
Fggy	T	A	4: 95,800,604	Y318*	probably null	Het
Gm11639	T	C	11: 104,751,863	V1104A	possibly damaging	Het
Hip1	A	G	5: 135,428,743	L703P	probably benign	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Igf2r	GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC	GCAGCCCTCCATAGGCGC	17: 12,751,293		probably null	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Larp4	A	G	15: 99,991,812	E204G	probably benign	Het
Lbr	A	G	1: 181,817,554	I511T		Het
Lingo3	G	T	10: 80,834,689	T469K	probably benign	Het
Lrrc30	A	T	17: 67,631,803	W261R	probably damaging	Het
Man2b1	T	C	8: 85,091,526	V442A	probably damaging	Het
Mtcl1	T	A	17: 66,343,611	M1620L	probably benign	Het
Myo18a	T	C	11: 77,778,073	V253A	possibly damaging	Het
Olfr1453	A	T	19: 13,027,913	C139S	probably damaging	Het
Pcdhb22	A	T	18: 37,519,669	N140Y	probably damaging	Het
Ppp1r9b	T	C	11: 94,992,428	V294A	probably benign	Het
Ptk7	A	T	17: 46,566,191	D980E	probably damaging	Het
Rdh11	T	A	12: 79,191,939		probably benign	Het
Sec23ip	T	G	7: 128,764,081	L558R	probably damaging	Het
Slc22a26	C	T	19: 7,785,194	M460I	probably benign	Het
Smc1b	G	A	15: 85,120,674	Q400*	probably null	Het
Spg11	T	C	2: 122,088,307	E947G	probably damaging	Het
Stab1	T	C	14: 31,154,848	I840V	probably benign	Het
Tlk1	T	C	2: 70,786,933	T68A	possibly damaging	Het
Traip	A	G	9: 107,963,350	I273V	probably benign	Het
Trim30c	T	G	7: 104,382,065	*514C	probably null	Het
U2surp	A	G	9: 95,481,663	Y615H	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
R6347:Mroh3	UTSW	1	136200937	splice site	probably null
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
R9007:Mroh3	UTSW	1	136200372	missense	probably damaging	1.00
R9219:Mroh3	UTSW	1	136191639	missense	probably benign	0.00
R9612:Mroh3	UTSW	1	136190975	missense	probably benign	0.01
R9698:Mroh3	UTSW	1	136186714	missense	probably damaging	0.98
Z1177:Mroh3	UTSW	1	136192136	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CTGGTGACCACGAATTGACATC -3'
(R):5'- CTCCTTTCTCCAAGCAGAGC -3'

Sequencing Primer
(F):5'- GTGACCACGAATTGACATCCATCTC -3'
(R):5'- TTTCTCCAAGCAGAGCCAGGG -3'

Posted On

2021-11-19