Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Mroh1'

212254

Institutional Source

Beutler Lab

Gene Symbol

Mroh1

Ensembl Gene

ENSMUSG00000022558

Gene Name

maestro heat-like repeat family member 1

Synonyms

Heatr7a, D330001F17Rik

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

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

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76380261-76453038 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76436049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1008 (T1008A)

Ref Sequence

ENSEMBL: ENSMUSP00000154882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000159218] [ENSMUST00000160631] [ENSMUST00000161305]

AlphaFold

E0CZ22

Predicted Effect

probably benign
Transcript: ENSMUST00000092595
AA Change: T1008A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: T1008A

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	4	435	4e-10	SMART
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

Predicted Effect

probably benign
Transcript: ENSMUST00000096385
AA Change: T1017A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: T1017A

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

probably benign
Transcript: ENSMUST00000159218
AA Change: T1008A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: T1008A

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: ENSMUST00000160631

SMART Domains

Protein: ENSMUSP00000123806
Gene: ENSMUSG00000022558

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160986

Predicted Effect

probably benign
Transcript: ENSMUST00000161305
AA Change: T1008A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183412

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,346,099 (GRCm38)	E466G	probably damaging	Het
Acacb	A	T	5: 114,165,734 (GRCm38)	R73*	probably null	Het
Acta1	A	T	8: 123,893,161 (GRCm38)	S147T	probably benign	Het
Adh1	G	A	3: 138,288,797 (GRCm38)	V293I	probably benign	Het
Aldh3b3	T	C	19: 3,965,130 (GRCm38)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,822,337 (GRCm38)	T198S	probably damaging	Het
Ankrd12	A	T	17: 65,986,703 (GRCm38)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,872,684 (GRCm38)	E126D	probably damaging	Het
Anpep	C	T	7: 79,838,256 (GRCm38)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,713 (GRCm38)		probably null	Het
Cfap44	A	C	16: 44,422,374 (GRCm38)	T714P	probably benign	Het
Cnot1	T	C	8: 95,743,121 (GRCm38)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,536,997 (GRCm38)	I88K	unknown	Het
Col1a1	G	A	11: 94,946,632 (GRCm38)		probably null	Het
Col5a1	A	G	2: 27,960,444 (GRCm38)	T518A	unknown	Het
Cul7	T	C	17: 46,655,740 (GRCm38)	L365P	probably damaging	Het
Dlec1	T	C	9: 119,102,644 (GRCm38)	S44P	probably damaging	Het
Dock9	T	C	14: 121,625,153 (GRCm38)		probably null	Het
Flrt2	C	T	12: 95,779,131 (GRCm38)	P81L	probably damaging	Het
Flrt2	C	A	12: 95,779,130 (GRCm38)	P81T	probably damaging	Het
Ginm1	A	G	10: 7,775,216 (GRCm38)		probably null	Het
Glis3	T	C	19: 28,531,585 (GRCm38)	N333S	probably damaging	Het
Glo1	T	G	17: 30,596,408 (GRCm38)	E144D	probably benign	Het
Golga1	A	T	2: 39,047,780 (GRCm38)		probably null	Het
H2-Aa	A	G	17: 34,283,233 (GRCm38)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,657,245 (GRCm38)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,256,356 (GRCm38)	V299D	probably benign	Het
Il17re	T	C	6: 113,469,704 (GRCm38)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,750,908 (GRCm38)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,423,734 (GRCm38)	D537E	probably benign	Het
Inppl1	T	C	7: 101,823,377 (GRCm38)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 108,040,996 (GRCm38)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,470,220 (GRCm38)	L304P	probably damaging	Het
Krt78	A	T	15: 101,946,963 (GRCm38)	C804*	probably null	Het
Lrrc29	T	C	8: 105,313,075 (GRCm38)	N556S	probably damaging	Het
Med15	G	T	16: 17,673,154 (GRCm38)		probably benign	Het
Mettl25	A	G	10: 105,826,087 (GRCm38)	S341P	probably damaging	Het
Mug1	A	G	6: 121,881,821 (GRCm38)	D1166G	probably benign	Het
Mug2	C	A	6: 122,071,842 (GRCm38)	H856N	probably benign	Het
Naca	T	A	10: 128,043,721 (GRCm38)		probably benign	Het
Nagk	G	T	6: 83,799,354 (GRCm38)	V184F	probably damaging	Het
Nav1	T	G	1: 135,472,410 (GRCm38)	N474T	probably benign	Het
Ncor2	T	A	5: 125,025,425 (GRCm38)	H2089L	probably benign	Het
Nek6	A	G	2: 38,582,446 (GRCm38)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,327,732 (GRCm38)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,825,900 (GRCm38)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,423,910 (GRCm38)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,313,671 (GRCm38)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,707,372 (GRCm38)	D320G	possibly damaging	Het
Olfr119	T	A	17: 37,701,421 (GRCm38)	H250Q	probably damaging	Het
Olfr209	A	T	16: 59,362,163 (GRCm38)	D18E	probably benign	Het
Olfr417	A	T	1: 174,369,168 (GRCm38)	I84L	probably benign	Het
Olfr625-ps1	T	C	7: 103,683,543 (GRCm38)	I265T	probably damaging	Het
Olfr685	A	G	7: 105,180,872 (GRCm38)	I162T	possibly damaging	Het
Osbpl5	T	C	7: 143,703,181 (GRCm38)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,630 (GRCm38)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,097,443 (GRCm38)	C66*	probably null	Het
Plec	T	A	15: 76,175,551 (GRCm38)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781 (GRCm38)		probably benign	Het
Ppp1r12a	T	A	10: 108,198,891 (GRCm38)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,504,744 (GRCm38)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,460,698 (GRCm38)		probably benign	Het
Ptchd4	A	T	17: 42,503,616 (GRCm38)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,498,468 (GRCm38)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,371,451 (GRCm38)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 180,283,313 (GRCm38)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,960,204 (GRCm38)	Q351R	probably null	Het
Rptn	A	T	3: 93,396,710 (GRCm38)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,779,036 (GRCm38)	K1010*	probably null	Het
Slc16a10	G	A	10: 40,056,606 (GRCm38)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,385,605 (GRCm38)		probably benign	Het
Slc34a1	A	T	13: 55,401,150 (GRCm38)	K138*	probably null	Het
Slc6a18	T	A	13: 73,670,043 (GRCm38)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,072,982 (GRCm38)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,385,975 (GRCm38)	S295T	probably damaging	Het
Snx4	A	T	16: 33,284,438 (GRCm38)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,671,139 (GRCm38)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,377 (GRCm38)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,910,176 (GRCm38)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,081,626 (GRCm38)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,317,724 (GRCm38)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,723,005 (GRCm38)	K823R	probably damaging	Het
Trim31	A	G	17: 36,901,800 (GRCm38)	E221G	probably benign	Het
Trim47	T	A	11: 116,107,779 (GRCm38)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,116,241 (GRCm38)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm38)		probably null	Het
Utp20	G	T	10: 88,753,026 (GRCm38)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,241,309 (GRCm38)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,844,273 (GRCm38)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,808,793 (GRCm38)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,224,286 (GRCm38)	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,604,832 (GRCm38)	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,790,276 (GRCm38)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,480,945 (GRCm38)	C151R	probably damaging	Het

Other mutations in Mroh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Mroh1	APN	15	76,432,288 (GRCm38)	missense	probably benign	0.01
IGL02141:Mroh1	APN	15	76,446,599 (GRCm38)	missense	possibly damaging	0.47
IGL02146:Mroh1	APN	15	76,434,679 (GRCm38)	splice site	probably benign
IGL02205:Mroh1	APN	15	76,437,239 (GRCm38)	missense	possibly damaging	0.81
IGL02261:Mroh1	APN	15	76,429,160 (GRCm38)	missense	probably benign	0.03
IGL02818:Mroh1	APN	15	76,432,401 (GRCm38)	splice site	probably null
IGL02949:Mroh1	APN	15	76,408,968 (GRCm38)	missense	probably damaging	0.97
IGL02951:Mroh1	APN	15	76,427,636 (GRCm38)	missense	probably damaging	1.00
IGL03154:Mroh1	APN	15	76,452,838 (GRCm38)	missense	probably damaging	1.00
IGL02799:Mroh1	UTSW	15	76,392,461 (GRCm38)	critical splice donor site	probably null
R0068:Mroh1	UTSW	15	76,446,692 (GRCm38)	splice site	probably benign
R0068:Mroh1	UTSW	15	76,446,692 (GRCm38)	splice site	probably benign
R0076:Mroh1	UTSW	15	76,451,140 (GRCm38)	missense	probably benign	0.00
R0180:Mroh1	UTSW	15	76,428,250 (GRCm38)	missense	probably damaging	0.99
R0315:Mroh1	UTSW	15	76,427,600 (GRCm38)	missense	possibly damaging	0.94
R0350:Mroh1	UTSW	15	76,432,249 (GRCm38)	missense	probably damaging	0.98
R0399:Mroh1	UTSW	15	76,452,099 (GRCm38)	missense	probably benign	0.44
R0835:Mroh1	UTSW	15	76,451,883 (GRCm38)	missense	probably damaging	0.96
R0893:Mroh1	UTSW	15	76,408,938 (GRCm38)	missense	possibly damaging	0.62
R1109:Mroh1	UTSW	15	76,446,509 (GRCm38)	splice site	probably benign
R1527:Mroh1	UTSW	15	76,452,263 (GRCm38)	missense	probably benign	0.03
R1595:Mroh1	UTSW	15	76,433,530 (GRCm38)	splice site	probably benign
R1900:Mroh1	UTSW	15	76,433,385 (GRCm38)	missense	probably benign	0.00
R2223:Mroh1	UTSW	15	76,408,045 (GRCm38)	critical splice donor site	probably null
R2415:Mroh1	UTSW	15	76,421,211 (GRCm38)	missense	probably damaging	0.99
R3113:Mroh1	UTSW	15	76,408,536 (GRCm38)	splice site	probably benign
R3437:Mroh1	UTSW	15	76,433,608 (GRCm38)	missense	possibly damaging	0.92
R3618:Mroh1	UTSW	15	76,452,346 (GRCm38)	missense	possibly damaging	0.55
R3833:Mroh1	UTSW	15	76,401,619 (GRCm38)	missense	probably benign	0.08
R4073:Mroh1	UTSW	15	76,407,985 (GRCm38)	missense	probably benign	0.13
R4156:Mroh1	UTSW	15	76,402,126 (GRCm38)	splice site	probably null
R4276:Mroh1	UTSW	15	76,393,851 (GRCm38)	missense	probably damaging	1.00
R4745:Mroh1	UTSW	15	76,408,530 (GRCm38)	critical splice donor site	probably null
R5450:Mroh1	UTSW	15	76,432,347 (GRCm38)	intron	probably benign
R5574:Mroh1	UTSW	15	76,433,931 (GRCm38)	missense	probably benign
R5673:Mroh1	UTSW	15	76,430,181 (GRCm38)	missense	probably damaging	1.00
R5970:Mroh1	UTSW	15	76,451,491 (GRCm38)	missense	probably benign	0.24
R5993:Mroh1	UTSW	15	76,446,680 (GRCm38)	missense	probably damaging	0.99
R6008:Mroh1	UTSW	15	76,451,357 (GRCm38)	missense	possibly damaging	0.50
R6082:Mroh1	UTSW	15	76,430,223 (GRCm38)	missense	probably benign	0.06
R6302:Mroh1	UTSW	15	76,436,119 (GRCm38)	critical splice donor site	probably null
R7030:Mroh1	UTSW	15	76,437,317 (GRCm38)	missense	probably benign	0.01
R7098:Mroh1	UTSW	15	76,408,457 (GRCm38)	nonsense	probably null
R7334:Mroh1	UTSW	15	76,427,638 (GRCm38)	missense	probably benign	0.00
R7337:Mroh1	UTSW	15	76,451,476 (GRCm38)	missense	probably benign	0.00
R7352:Mroh1	UTSW	15	76,451,474 (GRCm38)	missense	probably benign	0.06
R7446:Mroh1	UTSW	15	76,452,272 (GRCm38)	missense	possibly damaging	0.93
R7453:Mroh1	UTSW	15	76,433,545 (GRCm38)	missense	probably damaging	1.00
R7669:Mroh1	UTSW	15	76,451,848 (GRCm38)	missense	possibly damaging	0.88
R7753:Mroh1	UTSW	15	76,433,275 (GRCm38)	missense	possibly damaging	0.62
R7860:Mroh1	UTSW	15	76,447,332 (GRCm38)	missense	probably benign	0.00
R7990:Mroh1	UTSW	15	76,452,275 (GRCm38)	missense	probably damaging	1.00
R8140:Mroh1	UTSW	15	76,433,873 (GRCm38)	missense	probably benign	0.00
R8325:Mroh1	UTSW	15	76,432,215 (GRCm38)	frame shift	probably null
R8334:Mroh1	UTSW	15	76,446,556 (GRCm38)	missense	probably benign
R8529:Mroh1	UTSW	15	76,427,632 (GRCm38)	missense	probably benign	0.00
R8544:Mroh1	UTSW	15	76,443,358 (GRCm38)	nonsense	probably null
R8688:Mroh1	UTSW	15	76,428,350 (GRCm38)	missense	probably benign	0.00
R8769:Mroh1	UTSW	15	76,412,926 (GRCm38)	missense	probably benign	0.00
R8782:Mroh1	UTSW	15	76,414,296 (GRCm38)	missense	possibly damaging	0.74
R8887:Mroh1	UTSW	15	76,447,274 (GRCm38)	missense	probably benign	0.43
R8934:Mroh1	UTSW	15	76,450,186 (GRCm38)	missense	probably benign	0.03
R9254:Mroh1	UTSW	15	76,408,015 (GRCm38)	missense	probably benign	0.16
R9400:Mroh1	UTSW	15	76,451,893 (GRCm38)	missense	possibly damaging	0.93
R9443:Mroh1	UTSW	15	76,434,764 (GRCm38)	missense	probably damaging	1.00
Z1177:Mroh1	UTSW	15	76,423,761 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACTTGCAGCTGGGCTATG -3'
(R):5'- TGGCAGTTTGGACCAAATGG -3'

Sequencing Primer
(F):5'- CTGGGCTATGAGGGTGAGCC -3'
(R):5'- TTGAATGAAACCTGCTCACAGCTG -3'

Posted On

2014-06-30