Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03203:Mn1'

413063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mn1

Ensembl Gene

ENSMUSG00000070576

Gene Name

meningioma 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03203

Quality Score

Status

Chromosome

Chromosomal Location

111565228-111604899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111569269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1080 (S1080P)

Ref Sequence

ENSEMBL: ENSMUSP00000092034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094463]

AlphaFold

D3YWE6

Predicted Effect

probably benign
Transcript: ENSMUST00000094463
AA Change: S1080P

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

SMART Domains

Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: S1080P

Domain	Start	End	E-Value	Type
low complexity region	92	124	N/A	INTRINSIC
low complexity region	128	144	N/A	INTRINSIC
low complexity region	201	217	N/A	INTRINSIC
low complexity region	291	303	N/A	INTRINSIC
low complexity region	333	354	N/A	INTRINSIC
coiled coil region	507	548	N/A	INTRINSIC
low complexity region	551	565	N/A	INTRINSIC
low complexity region	569	584	N/A	INTRINSIC
low complexity region	643	657	N/A	INTRINSIC
low complexity region	685	704	N/A	INTRINSIC
low complexity region	708	725	N/A	INTRINSIC
low complexity region	727	738	N/A	INTRINSIC
low complexity region	745	771	N/A	INTRINSIC
low complexity region	780	791	N/A	INTRINSIC
low complexity region	862	892	N/A	INTRINSIC
low complexity region	913	933	N/A	INTRINSIC
low complexity region	957	972	N/A	INTRINSIC
low complexity region	1098	1110	N/A	INTRINSIC
low complexity region	1134	1145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196957

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die shortly after birth due to cleft palate. Development of several bones in the skull was abnormal with completely absent alisphenoid, squamosal, and vomer bones, hypoplastic basisphenoid, pterygoid, and presphenoid bones, and thinfrontal, parietal, and interparietal bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,915,163 (GRCm39)		probably benign	Het
Adamts17	T	G	7: 66,711,856 (GRCm39)	I725S	probably damaging	Het
Arhgef3	T	C	14: 27,116,073 (GRCm39)	Y292H	probably damaging	Het
Cdh19	C	T	1: 110,817,828 (GRCm39)	C638Y	possibly damaging	Het
Ces1c	A	T	8: 93,851,216 (GRCm39)	M136K	probably damaging	Het
Col11a1	A	G	3: 114,005,733 (GRCm39)	I482V	possibly damaging	Het
Col4a3	A	T	1: 82,650,360 (GRCm39)	K539*	probably null	Het
D630045J12Rik	A	G	6: 38,145,156 (GRCm39)	V1290A	probably damaging	Het
Ear6	T	G	14: 52,091,703 (GRCm39)	S83R	probably benign	Het
Gdf10	T	C	14: 33,656,430 (GRCm39)	V464A	possibly damaging	Het
Herc1	T	C	9: 66,296,182 (GRCm39)		probably null	Het
Katnal2	G	T	18: 77,095,220 (GRCm39)	A194E	probably damaging	Het
Lpxn	A	T	19: 12,796,770 (GRCm39)	M97L	probably benign	Het
Nadk	T	C	4: 155,669,708 (GRCm39)	F89L	probably damaging	Het
Nek5	G	A	8: 22,608,784 (GRCm39)	R92W	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipal4	C	A	11: 46,041,123 (GRCm39)	L357F	probably damaging	Het
Or12d12	A	G	17: 37,611,317 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,467,585 (GRCm39)	N169D	possibly damaging	Het
Plppr4	A	G	3: 117,119,540 (GRCm39)	C290R	possibly damaging	Het
Rxfp2	A	G	5: 149,987,145 (GRCm39)	D332G	probably benign	Het
Slc9b2	G	A	3: 135,031,973 (GRCm39)	D278N	probably damaging	Het
Taok1	A	G	11: 77,430,911 (GRCm39)	V838A	probably damaging	Het
Thoc1	T	A	18: 9,960,483 (GRCm39)		probably benign	Het
Usp36	C	T	11: 118,176,636 (GRCm39)	V61I	probably benign	Het
Uxs1	A	G	1: 43,846,504 (GRCm39)		probably benign	Het
Zmat4	C	T	8: 24,505,200 (GRCm39)	H147Y	probably damaging	Het

Other mutations in Mn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Mn1	APN	5	111,569,413 (GRCm39)	missense	possibly damaging	0.85
IGL01139:Mn1	APN	5	111,569,315 (GRCm39)	missense	probably damaging	0.96
IGL01546:Mn1	APN	5	111,569,114 (GRCm39)	missense	probably damaging	1.00
IGL02252:Mn1	APN	5	111,569,107 (GRCm39)	missense	probably damaging	0.96
IGL02821:Mn1	APN	5	111,569,717 (GRCm39)	missense	probably damaging	0.99
Uebermus	UTSW	5	111,569,752 (GRCm39)	splice site	probably null
FR4342:Mn1	UTSW	5	111,567,572 (GRCm39)	small insertion	probably benign
FR4449:Mn1	UTSW	5	111,567,576 (GRCm39)	small insertion	probably benign
FR4548:Mn1	UTSW	5	111,567,564 (GRCm39)	small insertion	probably benign
FR4976:Mn1	UTSW	5	111,567,568 (GRCm39)	small insertion	probably benign
R0639:Mn1	UTSW	5	111,567,182 (GRCm39)	missense	probably damaging	1.00
R0676:Mn1	UTSW	5	111,568,900 (GRCm39)	missense	possibly damaging	0.52
R1537:Mn1	UTSW	5	111,602,646 (GRCm39)	missense	probably damaging	0.96
R1638:Mn1	UTSW	5	111,569,435 (GRCm39)	missense	probably damaging	1.00
R1739:Mn1	UTSW	5	111,567,880 (GRCm39)	missense	possibly damaging	0.92
R1922:Mn1	UTSW	5	111,566,612 (GRCm39)	missense	probably damaging	0.99
R2008:Mn1	UTSW	5	111,566,723 (GRCm39)	missense	probably damaging	1.00
R2104:Mn1	UTSW	5	111,602,617 (GRCm39)	missense	possibly damaging	0.72
R2519:Mn1	UTSW	5	111,566,418 (GRCm39)	missense	possibly damaging	0.85
R3980:Mn1	UTSW	5	111,569,636 (GRCm39)	missense	possibly damaging	0.85
R4008:Mn1	UTSW	5	111,568,035 (GRCm39)	missense	probably benign
R4564:Mn1	UTSW	5	111,568,533 (GRCm39)	missense	possibly damaging	0.93
R4647:Mn1	UTSW	5	111,567,949 (GRCm39)	missense	probably benign
R4779:Mn1	UTSW	5	111,567,526 (GRCm39)	missense	probably damaging	0.99
R4819:Mn1	UTSW	5	111,567,803 (GRCm39)	missense	possibly damaging	0.93
R4962:Mn1	UTSW	5	111,602,652 (GRCm39)	missense	possibly damaging	0.85
R5373:Mn1	UTSW	5	111,569,752 (GRCm39)	splice site	probably null
R5374:Mn1	UTSW	5	111,569,752 (GRCm39)	splice site	probably null
R5521:Mn1	UTSW	5	111,569,635 (GRCm39)	missense	possibly damaging	0.72
R5633:Mn1	UTSW	5	111,568,192 (GRCm39)	missense	possibly damaging	0.52
R5744:Mn1	UTSW	5	111,568,402 (GRCm39)	missense	possibly damaging	0.93
R6050:Mn1	UTSW	5	111,567,263 (GRCm39)	missense	probably damaging	1.00
R6552:Mn1	UTSW	5	111,568,753 (GRCm39)	missense	possibly damaging	0.93
R7206:Mn1	UTSW	5	111,568,378 (GRCm39)	missense	possibly damaging	0.85
R7244:Mn1	UTSW	5	111,566,699 (GRCm39)	missense	possibly damaging	0.78
R8207:Mn1	UTSW	5	111,569,651 (GRCm39)	missense	probably damaging	0.99
R8222:Mn1	UTSW	5	111,566,546 (GRCm39)	missense	probably damaging	1.00
R8353:Mn1	UTSW	5	111,568,505 (GRCm39)	missense	possibly damaging	0.85
R8677:Mn1	UTSW	5	111,566,885 (GRCm39)	nonsense	probably null
R8990:Mn1	UTSW	5	111,566,381 (GRCm39)	missense	possibly damaging	0.85
R9602:Mn1	UTSW	5	111,565,449 (GRCm39)	start gained	probably benign
R9603:Mn1	UTSW	5	111,566,393 (GRCm39)	missense	probably damaging	1.00
RF025:Mn1	UTSW	5	111,567,571 (GRCm39)	nonsense	probably null
RF027:Mn1	UTSW	5	111,567,571 (GRCm39)	small insertion	probably benign
RF028:Mn1	UTSW	5	111,567,577 (GRCm39)	small insertion	probably benign
RF032:Mn1	UTSW	5	111,567,577 (GRCm39)	small insertion	probably benign
RF040:Mn1	UTSW	5	111,567,571 (GRCm39)	small insertion	probably benign
Z1088:Mn1	UTSW	5	111,566,146 (GRCm39)	missense	possibly damaging	0.85
Z1176:Mn1	UTSW	5	111,602,572 (GRCm39)	missense	possibly damaging	0.93
Z1176:Mn1	UTSW	5	111,568,245 (GRCm39)	missense	probably benign	0.08
Z1177:Mn1	UTSW	5	111,567,934 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02