Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Mn1'

254180

Institutional Source

Beutler Lab

Gene Symbol

Mn1

Ensembl Gene

ENSMUSG00000070576

Gene Name

meningioma 1

Synonyms

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2519 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

111565228-111604899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111566418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 129 (H129Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092034 (fasta)

Gene Model

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

AlphaFold

D3YWE6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094463
AA Change: H129Q

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: H129Q

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

Meta Mutation Damage Score

0.1587

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,940,000 (GRCm39)	Y377*	probably null	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm39)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,544,877 (GRCm39)	Y328*	probably null	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Lipf	G	T	19: 33,942,925 (GRCm39)	V78L	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rad50	G	A	11: 53,598,012 (GRCm39)		probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab1	A	T	14: 30,876,829 (GRCm39)	C832S	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vmn2r99	T	C	17: 19,598,970 (GRCm39)	I218T	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	probably null	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
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
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'- GCTTGAACATGGAGCCCTAC -3'
(R):5'- GAATCTACGGCTCCTTGGTTCG -3'

Sequencing Primer
(F):5'- TACGGCTTTCATGCGCG -3'
(R):5'- TCCAGGCTGTGAGAATCCGAG -3'

Posted On

2014-12-04