Mutagenetix > Incidental Mutation

Incidental Mutation 'R1537:Mn1'

169588

Institutional Source

Beutler Lab

Gene Symbol

Mn1

Ensembl Gene

ENSMUSG00000070576

Gene Name

meningioma 1

Synonyms

MMRRC Submission

039576-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1537 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

111565228-111604899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111602646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1295 (A1295T)

Ref Sequence

ENSEMBL: ENSMUSP00000092034 (fasta)

Gene Model

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

AlphaFold

D3YWE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000094463
AA Change: A1295T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: A1295T

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,124 (GRCm39)	H86L	possibly damaging	Het
4930519G04Rik	A	G	5: 115,008,278 (GRCm39)	T31A	probably benign	Het
Ahcyl1	A	G	3: 107,603,505 (GRCm39)	F30S	probably benign	Het
Alox5ap	G	A	5: 149,201,993 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,526,729 (GRCm39)	S53G	probably null	Het
Arap3	A	T	18: 38,122,737 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,979,783 (GRCm39)	V2769E	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bhlha9	C	T	11: 76,563,457 (GRCm39)	S28L	probably benign	Het
Bltp2	T	A	11: 78,180,169 (GRCm39)	Y2150N	probably damaging	Het
Bmpr2	A	G	1: 59,907,285 (GRCm39)	T793A	probably benign	Het
Ccdc80	G	A	16: 44,916,299 (GRCm39)	A352T	probably benign	Het
Chst2	A	T	9: 95,288,194 (GRCm39)	F51I	probably benign	Het
Col14a1	A	G	15: 55,244,163 (GRCm39)	N412S	unknown	Het
Dclk2	T	C	3: 86,713,491 (GRCm39)	I451V	probably damaging	Het
Ddb2	A	G	2: 91,065,234 (GRCm39)	S64P	probably benign	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,748,504 (GRCm39)	E870G	probably damaging	Het
Dusp4	G	T	8: 35,285,570 (GRCm39)	R277L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Garem1	A	T	18: 21,301,931 (GRCm39)		probably null	Het
Gnpat	A	G	8: 125,597,555 (GRCm39)	E39G	probably damaging	Het
Golgb1	A	T	16: 36,719,150 (GRCm39)	Q352L	possibly damaging	Het
Hdlbp	T	C	1: 93,345,096 (GRCm39)	D803G	probably benign	Het
Hps1	A	G	19: 42,748,143 (GRCm39)		probably null	Het
Ilvbl	G	A	10: 78,415,565 (GRCm39)	R327H	probably benign	Het
Itpr3	A	G	17: 27,333,121 (GRCm39)	D1911G	possibly damaging	Het
Lmo7	T	A	14: 102,166,700 (GRCm39)		probably benign	Het
Mcm10	G	A	2: 5,003,591 (GRCm39)	T542I	possibly damaging	Het
Med1	A	G	11: 98,051,772 (GRCm39)	V497A	probably damaging	Het
Myh7b	A	C	2: 155,473,707 (GRCm39)	D1580A	probably damaging	Het
Naa20	A	G	2: 145,754,438 (GRCm39)	I101V	probably benign	Het
Nav3	T	C	10: 109,702,846 (GRCm39)	Y229C	probably damaging	Het
Obscn	T	C	11: 58,891,575 (GRCm39)	R6986G	unknown	Het
Or51h7	G	A	7: 102,591,547 (GRCm39)	T79I	probably damaging	Het
Or8b4	A	G	9: 37,830,570 (GRCm39)	I211V	probably benign	Het
P2rx3	A	G	2: 84,853,825 (GRCm39)		probably null	Het
Pcdhac2	G	A	18: 37,279,539 (GRCm39)	G840R	possibly damaging	Het
Pclo	A	G	5: 14,762,489 (GRCm39)	N3654S	unknown	Het
Pcnx2	T	A	8: 126,604,188 (GRCm39)	E689D	possibly damaging	Het
Pds5a	A	G	5: 65,804,464 (GRCm39)	S532P	probably benign	Het
Phf1	G	A	17: 27,154,372 (GRCm39)		probably null	Het
Pkp4	G	A	2: 59,045,147 (GRCm39)	V41M	probably damaging	Het
Prlr	T	G	15: 10,328,364 (GRCm39)		probably null	Het
Prr12	G	T	7: 44,678,366 (GRCm39)	A1954D	unknown	Het
Prtg	A	G	9: 72,717,039 (GRCm39)	T127A	probably benign	Het
Ptprh	A	G	7: 4,552,698 (GRCm39)	L884P	probably damaging	Het
Rnf170	T	A	8: 26,629,076 (GRCm39)	D183E	probably benign	Het
Rrp12	A	T	19: 41,875,242 (GRCm39)	H339Q	probably damaging	Het
Rubcnl	T	G	14: 75,278,267 (GRCm39)	S350R	possibly damaging	Het
Sgo2b	T	A	8: 64,379,536 (GRCm39)	T1099S	possibly damaging	Het
Ska2	T	C	11: 87,006,945 (GRCm39)	S17P	probably damaging	Het
Slc38a2	A	G	15: 96,591,034 (GRCm39)	I243T	possibly damaging	Het
Sptan1	T	A	2: 29,916,034 (GRCm39)	D2007E	possibly damaging	Het
Taar5	T	A	10: 23,846,620 (GRCm39)	L6H	probably benign	Het
Tbata	G	T	10: 61,019,270 (GRCm39)		probably null	Het
Tent2	C	T	13: 93,312,076 (GRCm39)	G208D	probably damaging	Het
Tmem107	T	C	11: 68,963,284 (GRCm39)	S98P	probably damaging	Het
Tpst2	A	G	5: 112,456,286 (GRCm39)	D275G	possibly damaging	Het
Ttc28	G	T	5: 111,433,184 (GRCm39)	G2073W	probably damaging	Het
Ttc7	T	C	17: 87,629,891 (GRCm39)	V291A	possibly damaging	Het
Vps13b	T	A	15: 35,792,327 (GRCm39)	N2198K	possibly damaging	Het
Wdr37	A	T	13: 8,887,039 (GRCm39)	D249E	probably benign	Het
Xirp2	G	T	2: 67,340,357 (GRCm39)	C866F	probably damaging	Het
Zfp990	A	G	4: 145,263,566 (GRCm39)	E188G	possibly damaging	Het
Zkscan2	A	G	7: 123,099,064 (GRCm39)	S43P	possibly damaging	Het
Zscan5b	A	G	7: 6,236,850 (GRCm39)	R200G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCGCAGCCCAAACTTCTGAGGAC -3'
(R):5'- GAACCCTTTCCATTCTGAGTGCCAC -3'

Sequencing Primer
(F):5'- TGGGAGAAGGCTACCTCTCATC -3'
(R):5'- TTCTGAGTGCCACTAAGAAAGTACC -3'

Posted On

2014-04-13