Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02949:Mroh1'

364887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mroh1

Ensembl Gene

ENSMUSG00000022558

Gene Name

maestro heat-like repeat family member 1

Synonyms

Heatr7a, D330001F17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02949

Quality Score

Status

Chromosome

Chromosomal Location

76264638-76337239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76293168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 314 (H314L)

Ref Sequence

ENSEMBL: ENSMUSP00000124811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092595] [ENSMUST00000096385] [ENSMUST00000159218] [ENSMUST00000161305] [ENSMUST00000162319]

AlphaFold

E0CZ22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092595
AA Change: H314L

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090256
Gene: ENSMUSG00000022558
AA Change: H314L

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

possibly damaging
Transcript: ENSMUST00000096385
AA Change: H314L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: H314L

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 damaging
Transcript: ENSMUST00000159218
AA Change: H314L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: H314L

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: ENSMUST00000160986

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161305
AA Change: H314L

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162319

SMART Domains

Protein: ENSMUSP00000124353
Gene: ENSMUSG00000022558

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	4	267	9e-6	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abhd5	T	C	9: 122,206,980 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
B4galt2	C	T	4: 117,738,602 (GRCm39)	A72T	probably benign	Het
Ccdc141	T	C	2: 76,857,938 (GRCm39)	Y1081C	probably damaging	Het
Coq8b	T	C	7: 26,956,038 (GRCm39)	V405A	possibly damaging	Het
Ddah2	A	G	17: 35,280,776 (GRCm39)	K251E	probably damaging	Het
Dnah5	T	C	15: 28,272,331 (GRCm39)	V1045A	probably benign	Het
Dpy19l1	A	T	9: 24,332,476 (GRCm39)	M662K	probably benign	Het
Dpys	A	G	15: 39,690,279 (GRCm39)	V358A	probably damaging	Het
H2-D1	A	G	17: 35,483,064 (GRCm39)	N198S	probably benign	Het
Hnrnpa1	T	C	15: 103,150,538 (GRCm39)	V163A	probably damaging	Het
Hr	C	T	14: 70,797,225 (GRCm39)	R543C	possibly damaging	Het
Lct	C	T	1: 128,240,869 (GRCm39)	V245M	probably benign	Het
Lpl	G	A	8: 69,345,400 (GRCm39)	V135M	probably damaging	Het
Mblac1	T	A	5: 138,193,119 (GRCm39)	C154S	probably benign	Het
Mmp9	T	C	2: 164,793,039 (GRCm39)	F396S	probably damaging	Het
Msantd4	T	A	9: 4,385,196 (GRCm39)	L307Q	probably damaging	Het
Nol8	A	G	13: 49,815,878 (GRCm39)	D662G	probably benign	Het
Nynrin	G	A	14: 56,109,837 (GRCm39)	S1648N	probably damaging	Het
Or52a20	A	G	7: 103,366,427 (GRCm39)	I209V	probably benign	Het
Plcb2	C	T	2: 118,549,590 (GRCm39)		probably null	Het
Scyl2	T	A	10: 89,496,163 (GRCm39)	N229I	possibly damaging	Het
Spryd3	C	T	15: 102,026,544 (GRCm39)	E376K	probably benign	Het
Srr	T	G	11: 74,799,563 (GRCm39)	E304A	probably benign	Het
Srsf1	A	G	11: 87,940,352 (GRCm39)		probably benign	Het
Txnrd2	T	G	16: 18,296,456 (GRCm39)	S473A	probably benign	Het
Wdr18	T	A	10: 79,800,889 (GRCm39)	C151S	probably benign	Het
Zfp282	C	T	6: 47,874,848 (GRCm39)	T351I	probably damaging	Het

Other mutations in Mroh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Mroh1	APN	15	76,316,488 (GRCm39)	missense	probably benign	0.01
IGL02141:Mroh1	APN	15	76,330,799 (GRCm39)	missense	possibly damaging	0.47
IGL02146:Mroh1	APN	15	76,318,879 (GRCm39)	splice site	probably benign
IGL02205:Mroh1	APN	15	76,321,439 (GRCm39)	missense	possibly damaging	0.81
IGL02261:Mroh1	APN	15	76,313,360 (GRCm39)	missense	probably benign	0.03
IGL02818:Mroh1	APN	15	76,316,601 (GRCm39)	splice site	probably null
IGL02951:Mroh1	APN	15	76,311,836 (GRCm39)	missense	probably damaging	1.00
IGL03154:Mroh1	APN	15	76,337,038 (GRCm39)	missense	probably damaging	1.00
IGL02799:Mroh1	UTSW	15	76,276,661 (GRCm39)	critical splice donor site	probably null
R0068:Mroh1	UTSW	15	76,330,892 (GRCm39)	splice site	probably benign
R0068:Mroh1	UTSW	15	76,330,892 (GRCm39)	splice site	probably benign
R0076:Mroh1	UTSW	15	76,335,340 (GRCm39)	missense	probably benign	0.00
R0180:Mroh1	UTSW	15	76,312,450 (GRCm39)	missense	probably damaging	0.99
R0315:Mroh1	UTSW	15	76,311,800 (GRCm39)	missense	possibly damaging	0.94
R0350:Mroh1	UTSW	15	76,316,449 (GRCm39)	missense	probably damaging	0.98
R0399:Mroh1	UTSW	15	76,336,299 (GRCm39)	missense	probably benign	0.44
R0835:Mroh1	UTSW	15	76,336,083 (GRCm39)	missense	probably damaging	0.96
R0893:Mroh1	UTSW	15	76,293,138 (GRCm39)	missense	possibly damaging	0.62
R1109:Mroh1	UTSW	15	76,330,709 (GRCm39)	splice site	probably benign
R1527:Mroh1	UTSW	15	76,336,463 (GRCm39)	missense	probably benign	0.03
R1595:Mroh1	UTSW	15	76,317,730 (GRCm39)	splice site	probably benign
R1900:Mroh1	UTSW	15	76,317,585 (GRCm39)	missense	probably benign	0.00
R1901:Mroh1	UTSW	15	76,320,249 (GRCm39)	missense	probably benign
R2223:Mroh1	UTSW	15	76,292,245 (GRCm39)	critical splice donor site	probably null
R2415:Mroh1	UTSW	15	76,305,411 (GRCm39)	missense	probably damaging	0.99
R3113:Mroh1	UTSW	15	76,292,736 (GRCm39)	splice site	probably benign
R3437:Mroh1	UTSW	15	76,317,808 (GRCm39)	missense	possibly damaging	0.92
R3618:Mroh1	UTSW	15	76,336,546 (GRCm39)	missense	possibly damaging	0.55
R3833:Mroh1	UTSW	15	76,285,819 (GRCm39)	missense	probably benign	0.08
R4073:Mroh1	UTSW	15	76,292,185 (GRCm39)	missense	probably benign	0.13
R4156:Mroh1	UTSW	15	76,286,326 (GRCm39)	splice site	probably null
R4276:Mroh1	UTSW	15	76,278,051 (GRCm39)	missense	probably damaging	1.00
R4745:Mroh1	UTSW	15	76,292,730 (GRCm39)	critical splice donor site	probably null
R5450:Mroh1	UTSW	15	76,316,547 (GRCm39)	intron	probably benign
R5574:Mroh1	UTSW	15	76,318,131 (GRCm39)	missense	probably benign
R5673:Mroh1	UTSW	15	76,314,381 (GRCm39)	missense	probably damaging	1.00
R5970:Mroh1	UTSW	15	76,335,691 (GRCm39)	missense	probably benign	0.24
R5993:Mroh1	UTSW	15	76,330,880 (GRCm39)	missense	probably damaging	0.99
R6008:Mroh1	UTSW	15	76,335,557 (GRCm39)	missense	possibly damaging	0.50
R6082:Mroh1	UTSW	15	76,314,423 (GRCm39)	missense	probably benign	0.06
R6302:Mroh1	UTSW	15	76,320,319 (GRCm39)	critical splice donor site	probably null
R7030:Mroh1	UTSW	15	76,321,517 (GRCm39)	missense	probably benign	0.01
R7098:Mroh1	UTSW	15	76,292,657 (GRCm39)	nonsense	probably null
R7334:Mroh1	UTSW	15	76,311,838 (GRCm39)	missense	probably benign	0.00
R7337:Mroh1	UTSW	15	76,335,676 (GRCm39)	missense	probably benign	0.00
R7352:Mroh1	UTSW	15	76,335,674 (GRCm39)	missense	probably benign	0.06
R7446:Mroh1	UTSW	15	76,336,472 (GRCm39)	missense	possibly damaging	0.93
R7453:Mroh1	UTSW	15	76,317,745 (GRCm39)	missense	probably damaging	1.00
R7669:Mroh1	UTSW	15	76,336,048 (GRCm39)	missense	possibly damaging	0.88
R7753:Mroh1	UTSW	15	76,317,475 (GRCm39)	missense	possibly damaging	0.62
R7860:Mroh1	UTSW	15	76,331,532 (GRCm39)	missense	probably benign	0.00
R7990:Mroh1	UTSW	15	76,336,475 (GRCm39)	missense	probably damaging	1.00
R8140:Mroh1	UTSW	15	76,318,073 (GRCm39)	missense	probably benign	0.00
R8325:Mroh1	UTSW	15	76,316,415 (GRCm39)	frame shift	probably null
R8334:Mroh1	UTSW	15	76,330,756 (GRCm39)	missense	probably benign
R8529:Mroh1	UTSW	15	76,311,832 (GRCm39)	missense	probably benign	0.00
R8544:Mroh1	UTSW	15	76,327,558 (GRCm39)	nonsense	probably null
R8688:Mroh1	UTSW	15	76,312,550 (GRCm39)	missense	probably benign	0.00
R8769:Mroh1	UTSW	15	76,297,126 (GRCm39)	missense	probably benign	0.00
R8782:Mroh1	UTSW	15	76,298,496 (GRCm39)	missense	possibly damaging	0.74
R8887:Mroh1	UTSW	15	76,331,474 (GRCm39)	missense	probably benign	0.43
R8934:Mroh1	UTSW	15	76,334,386 (GRCm39)	missense	probably benign	0.03
R9254:Mroh1	UTSW	15	76,292,215 (GRCm39)	missense	probably benign	0.16
R9400:Mroh1	UTSW	15	76,336,093 (GRCm39)	missense	possibly damaging	0.93
R9443:Mroh1	UTSW	15	76,318,964 (GRCm39)	missense	probably damaging	1.00
Z1177:Mroh1	UTSW	15	76,307,961 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18