Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01546:Mn1'

90346

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 #

IGL01546

Quality Score

Status

Chromosome

Chromosomal Location

111565228-111604899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111569114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1028 (D1028V)

Ref Sequence

ENSEMBL: ENSMUSP00000092034 (fasta)

Gene Model

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

AlphaFold

D3YWE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000094463
AA Change: D1028V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: D1028V

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	C	A	17: 24,382,574 (GRCm39)	R22L	probably benign	Het
Arg2	T	C	12: 79,196,633 (GRCm39)		probably benign	Het
Catip	T	C	1: 74,401,954 (GRCm39)	L43P	probably damaging	Het
Ccdc30	A	C	4: 119,255,385 (GRCm39)	L123R	probably damaging	Het
Cep89	T	C	7: 35,120,325 (GRCm39)	L369P	probably damaging	Het
Dolpp1	T	C	2: 30,287,107 (GRCm39)	F180L	probably damaging	Het
Kctd19	T	C	8: 106,113,594 (GRCm39)	H670R	probably benign	Het
Kntc1	T	A	5: 123,903,068 (GRCm39)	I315N	probably benign	Het
Mfsd4b2	A	T	10: 39,797,471 (GRCm39)	W295R	probably damaging	Het
Mgam	A	G	6: 40,631,627 (GRCm39)	T116A	probably damaging	Het
Or1e17	G	A	11: 73,832,020 (GRCm39)	G316D	probably benign	Het
Or2ag1b	A	G	7: 106,288,738 (GRCm39)	S67P	probably damaging	Het
Or52b1	T	C	7: 104,978,899 (GRCm39)	R167G	probably damaging	Het
Or52j3	A	T	7: 102,836,617 (GRCm39)	I270F	probably damaging	Het
Or7a40	A	G	16: 16,491,129 (GRCm39)	S239P	probably damaging	Het
Or7g27	T	G	9: 19,250,068 (GRCm39)	V104G	possibly damaging	Het
Phc3	C	A	3: 31,015,888 (GRCm39)	A108S	probably damaging	Het
Pkhd1l1	A	G	15: 44,429,712 (GRCm39)	Y3310C	probably damaging	Het
Ppp4r3b	T	C	11: 29,159,488 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,119 (GRCm39)	T159A	probably benign	Het
Sos1	T	A	17: 80,716,040 (GRCm39)	Y974F	probably damaging	Het
Spaca7b	T	A	8: 11,706,136 (GRCm39)	M133L	probably benign	Het
Taar8a	A	T	10: 23,952,813 (GRCm39)	Y139F	possibly damaging	Het
Vcam1	A	G	3: 115,909,591 (GRCm39)	C579R	possibly damaging	Het
Zdhhc17	C	T	10: 110,782,054 (GRCm39)	V547M	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
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
IGL03203:Mn1	APN	5	111,569,269 (GRCm39)	missense	probably benign
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

2013-12-03