Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03154:Mroh1'

411198

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 #

IGL03154

Quality Score

Status

Chromosome

Chromosomal Location

76264638-76337239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76337038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1617 (L1617P)

Ref Sequence

ENSEMBL: ENSMUSP00000094115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023217] [ENSMUST00000043089] [ENSMUST00000096385] [ENSMUST00000159218]

AlphaFold

E0CZ22

Predicted Effect

probably benign
Transcript: ENSMUST00000023217

SMART Domains

Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC
low complexity region	106	117	N/A	INTRINSIC
BOP1NT	130	388	1.38e-177	SMART
WD40	388	427	1.16e-9	SMART
WD40	430	469	6.16e0	SMART
WD40	508	551	7.1e1	SMART
WD40	554	592	4.46e-1	SMART
WD40	595	634	2.76e-2	SMART
WD40	638	677	4.14e-6	SMART
WD40	689	732	3.14e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043089

SMART Domains

Protein: ENSMUSP00000043668
Gene: ENSMUSG00000034161

Domain	Start	End	E-Value	Type
low complexity region	24	38	N/A	INTRINSIC
low complexity region	45	80	N/A	INTRINSIC
HLH	84	136	1.46e-16	SMART
low complexity region	161	171	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000096385
AA Change: L1617P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: L1617P

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: ENSMUST00000159132

Predicted Effect

probably damaging
Transcript: ENSMUST00000159218
AA Change: L1608P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124811
Gene: ENSMUSG00000022558
AA Change: L1608P

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: ENSMUST00000160525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160986

Predicted Effect

probably benign
Transcript: ENSMUST00000161265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229633

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,608,132 (GRCm39)	E318G	probably benign	Het
Alpi	A	T	1: 87,027,810 (GRCm39)	W257R	probably damaging	Het
Arap2	T	C	5: 62,800,268 (GRCm39)	E1253G	probably damaging	Het
Fbxw13	G	T	9: 109,010,533 (GRCm39)	F368L	probably damaging	Het
H2-T9	T	A	17: 36,438,767 (GRCm39)	N208I	probably benign	Het
Herc2	T	A	7: 55,851,907 (GRCm39)	D3655E	probably damaging	Het
Hkdc1	T	A	10: 62,221,484 (GRCm39)	D858V	probably damaging	Het
Ifi205	A	C	1: 173,845,232 (GRCm39)		probably benign	Het
Ighv10-3	T	A	12: 114,487,507 (GRCm39)	M1L	probably benign	Het
Igkv4-90	C	T	6: 68,784,256 (GRCm39)	G87R	probably damaging	Het
Insc	G	A	7: 114,441,424 (GRCm39)	G413S	probably null	Het
Iqch	T	A	9: 63,361,964 (GRCm39)	T850S	probably damaging	Het
Kcnd2	A	G	6: 21,216,707 (GRCm39)	Y137C	probably damaging	Het
Lhx6	A	T	2: 35,984,455 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,379,386 (GRCm39)	S109P	probably damaging	Het
Or11g24	A	T	14: 50,662,080 (GRCm39)	I35F	probably benign	Het
Or1j17	A	T	2: 36,578,655 (GRCm39)	I214F	possibly damaging	Het
Or4d1	A	T	11: 87,805,072 (GRCm39)	V220D	possibly damaging	Het
Or52b3	G	T	7: 102,203,913 (GRCm39)	V141L	probably benign	Het
Prex2	T	C	1: 11,223,857 (GRCm39)	V727A	possibly damaging	Het
Ralgapb	A	G	2: 158,274,786 (GRCm39)	H229R	probably damaging	Het
Rusc2	G	A	4: 43,425,806 (GRCm39)	G1304S	probably benign	Het
Sbsn	A	G	7: 30,451,153 (GRCm39)	N56S	possibly damaging	Het
Skint8	T	A	4: 111,796,707 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,625,255 (GRCm39)	M1565K	possibly damaging	Het
Uso1	C	A	5: 92,328,477 (GRCm39)	S358*	probably null	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
IGL02949:Mroh1	APN	15	76,293,168 (GRCm39)	missense	probably damaging	0.97
IGL02951:Mroh1	APN	15	76,311,836 (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

2016-08-02