Mutagenetix > Incidental Mutation

Incidental Mutation 'R1795:Mroh8'

202107

Institutional Source

Beutler Lab

Gene Symbol

Mroh8

Ensembl Gene

ENSMUSG00000074627

Gene Name

maestro heat-like repeat family member 8

Synonyms

4922505G16Rik

MMRRC Submission

039825-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R1795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

157208550-157279549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 157269551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 161 (E161V)

Ref Sequence

ENSEMBL: ENSMUSP00000124362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143663]

AlphaFold

E9PYI4

Predicted Effect

probably benign
Transcript: ENSMUST00000143663
AA Change: E161V

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: E161V

Domain	Start	End	E-Value	Type
low complexity region	189	200	N/A	INTRINSIC
low complexity region	357	370	N/A	INTRINSIC
SCOP:d1qbkb_	724	1024	8e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150035

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 110,050,966 (GRCm38)	I1159T	probably benign	Het
Abcc1	T	C	16: 14,465,137 (GRCm38)	V1159A	possibly damaging	Het
Abcg5	A	G	17: 84,673,579 (GRCm38)	I194T	probably damaging	Het
Abtb2	A	G	2: 103,567,024 (GRCm38)	T100A	probably benign	Het
Adam4	C	T	12: 81,421,294 (GRCm38)	M184I	probably benign	Het
Afap1l2	T	C	19: 56,928,409 (GRCm38)	D155G	probably damaging	Het
Ahnak	T	C	19: 9,002,438 (GRCm38)	V362A	possibly damaging	Het
Ak7	C	T	12: 105,726,223 (GRCm38)	R179*	probably null	Het
Akap8	C	A	17: 32,315,477 (GRCm38)	G332C	probably damaging	Het
Akr1e1	T	A	13: 4,595,072 (GRCm38)	Q204L	probably damaging	Het
Ankrd12	T	C	17: 65,986,227 (GRCm38)	E737G	possibly damaging	Het
Atrn	A	G	2: 130,972,288 (GRCm38)	D718G	probably benign	Het
Bco2	A	G	9: 50,541,169 (GRCm38)	S200P	possibly damaging	Het
C030005K15Rik	A	T	10: 97,725,786 (GRCm38)	S28T	unknown	Het
Cdc14a	T	A	3: 116,298,473 (GRCm38)	Q356L	possibly damaging	Het
Cdk5rap3	A	G	11: 96,908,828 (GRCm38)	L387P	probably damaging	Het
Celsr1	A	T	15: 86,030,323 (GRCm38)	S1150T	probably damaging	Het
Cntfr	A	G	4: 41,670,841 (GRCm38)		probably null	Het
Cramp1	T	C	17: 24,964,910 (GRCm38)	N1244D	probably damaging	Het
Csmd3	G	T	15: 47,857,920 (GRCm38)	D1542E	possibly damaging	Het
Cyp4f17	A	T	17: 32,517,969 (GRCm38)	I92F	probably benign	Het
Dhx30	A	T	9: 110,107,983 (GRCm38)		probably null	Het
Dlg1	T	A	16: 31,743,147 (GRCm38)	H120Q	probably benign	Het
Dmgdh	A	T	13: 93,706,699 (GRCm38)	M348L	probably benign	Het
Dnmt3b	G	A	2: 153,683,639 (GRCm38)	E741K	possibly damaging	Het
Dock3	T	G	9: 107,025,335 (GRCm38)	H292P	probably damaging	Het
Ercc6	T	A	14: 32,517,028 (GRCm38)	N24K	probably benign	Het
Esco2	T	C	14: 65,827,277 (GRCm38)	Q338R	probably benign	Het
Etl4	T	C	2: 20,808,026 (GRCm38)		probably null	Het
Exoc7	A	T	11: 116,292,521 (GRCm38)	I498N	probably damaging	Het
Fap	G	A	2: 62,548,589 (GRCm38)	S123L	probably damaging	Het
Foxn1	T	C	11: 78,371,225 (GRCm38)	E106G	probably benign	Het
Fscb	T	A	12: 64,474,401 (GRCm38)	D97V	probably damaging	Het
Gabrg1	T	C	5: 70,782,253 (GRCm38)	T174A	possibly damaging	Het
Gan	C	T	8: 117,196,460 (GRCm38)	A461V	possibly damaging	Het
Gbp2	T	A	3: 142,630,523 (GRCm38)	D211E	possibly damaging	Het
Gm10271	A	T	10: 116,956,841 (GRCm38)	Y47N	unknown	Het
Gm17333	G	T	16: 77,852,823 (GRCm38)		noncoding transcript	Het
Gm1758	T	A	16: 14,502,278 (GRCm38)		noncoding transcript	Het
Golga3	A	G	5: 110,207,627 (GRCm38)	K989R	possibly damaging	Het
Gucy2g	C	A	19: 55,199,541 (GRCm38)	V1041F	probably damaging	Het
Guk1	A	T	11: 59,186,813 (GRCm38)	F25I	probably benign	Het
H2al1o	C	T	X: 9,572,090 (GRCm38)	E87K	possibly damaging	Het
Hemgn	C	A	4: 46,395,958 (GRCm38)	C426F	probably damaging	Het
Hps3	A	G	3: 20,012,695 (GRCm38)		probably null	Het
Il2rb	A	T	15: 78,483,987 (GRCm38)	D287E	probably damaging	Het
Ino80	A	T	2: 119,406,859 (GRCm38)	V1123D	probably damaging	Het
Kdm2b	A	G	5: 122,984,460 (GRCm38)		probably null	Het
Kif21a	A	T	15: 90,972,727 (GRCm38)		probably null	Het
Klhl33	A	T	14: 50,892,126 (GRCm38)	N347K	probably damaging	Het
Krt2	A	G	15: 101,816,426 (GRCm38)	F250L	possibly damaging	Het
Krt82	T	A	15: 101,543,384 (GRCm38)	N332I	possibly damaging	Het
Lgi1	A	G	19: 38,306,183 (GRCm38)	I444V	probably benign	Het
Lmod1	G	A	1: 135,325,124 (GRCm38)	V39M	probably damaging	Het
Lonrf2	G	A	1: 38,813,276 (GRCm38)	P165S	probably benign	Het
Mex3d	T	C	10: 80,381,542 (GRCm38)	T149A	probably benign	Het
Mideas	A	G	12: 84,158,974 (GRCm38)		probably null	Het
Mlxipl	A	C	5: 135,107,170 (GRCm38)	D83A	probably damaging	Het
Mroh9	G	A	1: 163,056,778 (GRCm38)	T397I	probably damaging	Het
Mtss1	T	C	15: 59,058,400 (GRCm38)	D32G	possibly damaging	Het
Mus81	T	C	19: 5,483,476 (GRCm38)	D495G	probably benign	Het
Neurod1	A	C	2: 79,454,329 (GRCm38)	S237A	probably benign	Het
Npas1	G	A	7: 16,474,800 (GRCm38)	R51C	probably damaging	Het
Or11g27	T	C	14: 50,533,702 (GRCm38)	S97P	possibly damaging	Het
P2ry14	T	C	3: 59,115,853 (GRCm38)	N62S	probably damaging	Het
Pcdh15	A	G	10: 74,624,255 (GRCm38)	Y1308C	probably damaging	Het
Pcdhb14	A	T	18: 37,449,535 (GRCm38)	M565L	probably benign	Het
Pde6a	A	G	18: 61,257,212 (GRCm38)	E502G	probably damaging	Het
Pde8b	A	G	13: 95,042,019 (GRCm38)	V566A	probably benign	Het
Phf11b	G	T	14: 59,328,105 (GRCm38)	Q108K	probably benign	Het
Pikfyve	T	C	1: 65,252,557 (GRCm38)	Y1312H	probably damaging	Het
Plcb3	T	C	19: 6,956,013 (GRCm38)		probably benign	Het
Plxna2	G	A	1: 194,806,303 (GRCm38)	G1629D	probably damaging	Het
Plxnb1	T	C	9: 109,100,745 (GRCm38)	V223A	probably benign	Het
Prkca	A	T	11: 108,012,692 (GRCm38)	Y285N	possibly damaging	Het
Prl2a1	A	T	13: 27,808,571 (GRCm38)	N226I	probably damaging	Het
Pus7	A	C	5: 23,741,916 (GRCm38)	M636R	probably damaging	Het
Samd9l	G	A	6: 3,375,264 (GRCm38)	Q666*	probably null	Het
Sema3d	A	G	5: 12,584,887 (GRCm38)	D640G	probably benign	Het
Slc6a15	A	G	10: 103,400,260 (GRCm38)	I279V	probably benign	Het
Slk	T	C	19: 47,620,534 (GRCm38)	V642A	possibly damaging	Het
Spata31e2	C	A	1: 26,682,989 (GRCm38)	G1037*	probably null	Het
Spta1	T	A	1: 174,245,730 (GRCm38)	M2305K	probably damaging	Het
Srrt	T	C	5: 137,303,012 (GRCm38)		probably benign	Het
Stfa2l1	A	T	16: 36,156,858 (GRCm38)	I8L	probably benign	Het
Tap1	T	C	17: 34,194,925 (GRCm38)	L638P	probably benign	Het
Tbccd1	A	T	16: 22,822,245 (GRCm38)	L461M	probably benign	Het
Tecta	T	C	9: 42,378,049 (GRCm38)	T407A	probably benign	Het
Tmbim7	T	C	5: 3,657,493 (GRCm38)		probably null	Het
Tnrc18	C	A	5: 142,815,114 (GRCm38)	V30L	probably benign	Het
Tomm7	A	G	5: 23,844,027 (GRCm38)	F16S	probably damaging	Het
Ugt2a2	A	G	5: 87,474,456 (GRCm38)	S428P	probably benign	Het
Vmn1r189	T	C	13: 22,102,154 (GRCm38)	E171G	probably benign	Het
Vmn1r61	T	C	7: 5,611,325 (GRCm38)		probably benign	Het
Vmn2r120	A	T	17: 57,525,038 (GRCm38)	S250R	probably benign	Het
Vmn2r8	T	C	5: 108,803,106 (GRCm38)	R158G	probably benign	Het
Vmn2r98	A	T	17: 19,066,440 (GRCm38)	Y400F	probably damaging	Het
Vps13c	C	A	9: 67,893,985 (GRCm38)	Y582*	probably null	Het
Zfp518a	T	A	19: 40,915,556 (GRCm38)	F1310I	probably benign	Het
Zswim1	A	G	2: 164,825,400 (GRCm38)	I191V	probably benign	Het

Other mutations in Mroh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mroh8	APN	2	157,216,914 (GRCm38)	missense	probably damaging	1.00
IGL00691:Mroh8	APN	2	157,238,307 (GRCm38)	splice site	probably benign
IGL00708:Mroh8	APN	2	157,220,170 (GRCm38)	missense	probably damaging	1.00
IGL01526:Mroh8	APN	2	157,238,312 (GRCm38)	splice site	probably benign
IGL01992:Mroh8	APN	2	157,213,696 (GRCm38)	missense	probably damaging	1.00
IGL02076:Mroh8	APN	2	157,271,962 (GRCm38)	critical splice donor site	probably null
IGL02308:Mroh8	APN	2	157,254,973 (GRCm38)	missense	probably damaging	1.00
IGL02592:Mroh8	APN	2	157,216,969 (GRCm38)	missense	probably damaging	0.96
PIT4378001:Mroh8	UTSW	2	157,228,700 (GRCm38)	missense	possibly damaging	0.73
PIT4449001:Mroh8	UTSW	2	157,225,534 (GRCm38)	missense	probably damaging	1.00
R0039:Mroh8	UTSW	2	157,229,929 (GRCm38)	missense	possibly damaging	0.92
R0039:Mroh8	UTSW	2	157,229,929 (GRCm38)	missense	possibly damaging	0.92
R0107:Mroh8	UTSW	2	157,225,468 (GRCm38)	missense	probably benign	0.01
R0511:Mroh8	UTSW	2	157,229,918 (GRCm38)	missense	probably damaging	1.00
R0523:Mroh8	UTSW	2	157,224,036 (GRCm38)	missense	probably damaging	1.00
R0619:Mroh8	UTSW	2	157,265,081 (GRCm38)	missense	possibly damaging	0.69
R1222:Mroh8	UTSW	2	157,241,854 (GRCm38)	splice site	probably benign
R1418:Mroh8	UTSW	2	157,241,854 (GRCm38)	splice site	probably benign
R1430:Mroh8	UTSW	2	157,269,525 (GRCm38)	missense	possibly damaging	0.69
R1458:Mroh8	UTSW	2	157,221,304 (GRCm38)	missense	probably damaging	1.00
R1509:Mroh8	UTSW	2	157,233,205 (GRCm38)	missense	probably benign	0.14
R1528:Mroh8	UTSW	2	157,230,055 (GRCm38)	missense	probably damaging	1.00
R1703:Mroh8	UTSW	2	157,271,976 (GRCm38)	missense	probably benign	0.01
R1982:Mroh8	UTSW	2	157,271,975 (GRCm38)	missense	possibly damaging	0.52
R3922:Mroh8	UTSW	2	157,222,811 (GRCm38)	missense	probably benign	0.03
R4024:Mroh8	UTSW	2	157,256,352 (GRCm38)	missense	probably benign	0.32
R4030:Mroh8	UTSW	2	157,213,720 (GRCm38)	missense	probably damaging	1.00
R4200:Mroh8	UTSW	2	157,241,810 (GRCm38)	missense	probably benign	0.10
R4492:Mroh8	UTSW	2	157,258,040 (GRCm38)	missense	probably damaging	1.00
R4900:Mroh8	UTSW	2	157,228,727 (GRCm38)	missense	probably benign	0.05
R5396:Mroh8	UTSW	2	157,228,656 (GRCm38)	missense	possibly damaging	0.92
R5464:Mroh8	UTSW	2	157,221,230 (GRCm38)	missense	probably damaging	1.00
R6008:Mroh8	UTSW	2	157,253,064 (GRCm38)	missense	probably benign	0.40
R6220:Mroh8	UTSW	2	157,233,163 (GRCm38)	missense	probably benign
R6661:Mroh8	UTSW	2	157,225,627 (GRCm38)	missense	probably benign
R7000:Mroh8	UTSW	2	157,216,977 (GRCm38)	missense	probably benign	0.03
R7024:Mroh8	UTSW	2	157,221,263 (GRCm38)	missense	probably benign
R7221:Mroh8	UTSW	2	157,229,917 (GRCm38)	missense	probably benign	0.06
R7549:Mroh8	UTSW	2	157,269,572 (GRCm38)	missense	probably benign	0.01
R7593:Mroh8	UTSW	2	157,229,947 (GRCm38)	missense	probably damaging	1.00
R7604:Mroh8	UTSW	2	157,269,564 (GRCm38)	missense	possibly damaging	0.75
R8316:Mroh8	UTSW	2	157,229,959 (GRCm38)	missense	possibly damaging	0.93
R8371:Mroh8	UTSW	2	157,252,976 (GRCm38)	nonsense	probably null
R8795:Mroh8	UTSW	2	157,225,573 (GRCm38)	missense	probably damaging	0.96
R8797:Mroh8	UTSW	2	157,229,956 (GRCm38)	missense	probably damaging	1.00
R8801:Mroh8	UTSW	2	157,233,166 (GRCm38)	missense	probably damaging	1.00
R8850:Mroh8	UTSW	2	157,241,753 (GRCm38)	missense	probably damaging	1.00
R9002:Mroh8	UTSW	2	157,217,019 (GRCm38)	missense	probably damaging	1.00
R9021:Mroh8	UTSW	2	157,222,867 (GRCm38)	missense	probably benign	0.06
R9110:Mroh8	UTSW	2	157,213,685 (GRCm38)	missense	possibly damaging	0.82
R9189:Mroh8	UTSW	2	157,269,625 (GRCm38)	missense	probably damaging	0.97
R9224:Mroh8	UTSW	2	157,221,149 (GRCm38)	missense	possibly damaging	0.83
R9225:Mroh8	UTSW	2	157,265,090 (GRCm38)	missense	probably damaging	0.99
R9387:Mroh8	UTSW	2	157,256,466 (GRCm38)	missense	possibly damaging	0.75
R9453:Mroh8	UTSW	2	157,230,028 (GRCm38)	missense	possibly damaging	0.55
R9485:Mroh8	UTSW	2	157,229,993 (GRCm38)	missense	probably benign	0.34
R9652:Mroh8	UTSW	2	157,253,050 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCACCGAGAACAGGCATGAC -3'
(R):5'- AGGCTCTGAGACACTGATTTTACAG -3'

Sequencing Primer
(F):5'- GGGATTAGCGAAGATTAACCATTAAC -3'
(R):5'- TTTTACAGTTGAGAAAACAGTGAGAG -3'

Posted On

2014-06-23