Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Mroh5'

428446

Institutional Source

Beutler Lab

Gene Symbol

Mroh5

Ensembl Gene

ENSMUSG00000072487

Gene Name

maestro heat-like repeat family member 5

Synonyms

LOC268816, Gm628

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5437 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

73761410-73839699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73787969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 338 (I338V)

Ref Sequence

ENSEMBL: ENSMUSP00000071366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071419] [ENSMUST00000110021] [ENSMUST00000151999]

AlphaFold

A0A571BEG0

Predicted Effect

probably benign
Transcript: ENSMUST00000071419
AA Change: I338V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000071366
Gene: ENSMUSG00000072487
AA Change: I338V

Domain	Start	End	E-Value	Type
low complexity region	173	184	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110021
AA Change: I341V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126186

Predicted Effect

probably benign
Transcript: ENSMUST00000151999
AA Change: I506V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118236
Gene: ENSMUSG00000072487
AA Change: I506V

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
SCOP:d1gw5a_	294	635	1e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	probably benign	Het

Other mutations in Mroh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Mroh5	APN	15	73792789	splice site	probably benign
IGL00466:Mroh5	APN	15	73792789	splice site	probably benign
IGL02937:Mroh5	APN	15	73789978	missense	probably damaging	1.00
R0102:Mroh5	UTSW	15	73819350	missense	probably benign	0.07
R0321:Mroh5	UTSW	15	73790043	missense	probably damaging	1.00
R0433:Mroh5	UTSW	15	73790028	missense	probably benign	0.01
R0433:Mroh5	UTSW	15	73790808	missense	probably damaging	1.00
R0707:Mroh5	UTSW	15	73790739	missense	possibly damaging	0.48
R1666:Mroh5	UTSW	15	73787905	missense	probably benign	0.43
R1668:Mroh5	UTSW	15	73787905	missense	probably benign	0.43
R2139:Mroh5	UTSW	15	73790091	missense	probably damaging	1.00
R2269:Mroh5	UTSW	15	73793148	missense	probably benign	0.02
R4078:Mroh5	UTSW	15	73786040	missense	possibly damaging	0.79
R4420:Mroh5	UTSW	15	73783074	small deletion	probably benign
R4460:Mroh5	UTSW	15	73791796	missense	probably damaging	0.97
R4585:Mroh5	UTSW	15	73789271	missense	probably benign	0.38
R5285:Mroh5	UTSW	15	73783074	small deletion	probably benign
R5287:Mroh5	UTSW	15	73783074	small deletion	probably benign
R5760:Mroh5	UTSW	15	73821507	missense	probably damaging	0.98
R5972:Mroh5	UTSW	15	73790719	critical splice donor site	probably null
R6192:Mroh5	UTSW	15	73790781	missense	probably damaging	1.00
R6457:Mroh5	UTSW	15	73790842	missense	probably damaging	1.00
R6477:Mroh5	UTSW	15	73790755	missense	probably damaging	1.00
R6776:Mroh5	UTSW	15	73789968	critical splice donor site	probably null
R6979:Mroh5	UTSW	15	73793129	missense	probably benign	0.16
R7238:Mroh5	UTSW	15	73791429	critical splice acceptor site	probably null
R7406:Mroh5	UTSW	15	73787734	missense	probably benign	0.38
R7853:Mroh5	UTSW	15	73791340	missense	probably benign	0.00
R7973:Mroh5	UTSW	15	73792765	nonsense	probably null
R8215:Mroh5	UTSW	15	73819290	missense	probably damaging	0.96
R8251:Mroh5	UTSW	15	73783153	missense	probably benign	0.01
R8771:Mroh5	UTSW	15	73821354	missense	possibly damaging	0.92
R9032:Mroh5	UTSW	15	73783453	missense	probably benign	0.00
R9070:Mroh5	UTSW	15	73784839	missense	probably damaging	1.00
R9238:Mroh5	UTSW	15	73791737	missense	probably benign	0.05
R9321:Mroh5	UTSW	15	73789264	missense	probably benign	0.00
X0024:Mroh5	UTSW	15	73787721	missense	probably benign	0.01
Z1088:Mroh5	UTSW	15	73788031	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TGGAGACCCAGAGCCTTTAG -3'
(R):5'- GCGTTCATGAGTAGGAGACTGG -3'

Sequencing Primer
(F):5'- TACCCAGGGCCTCCACTCTG -3'
(R):5'- GGGATCCGACATCTTCACATGTG -3'

Posted On

2016-09-01