Mutagenetix > Incidental Mutation

Incidental Mutation 'R1922:Mn1'

213136

Institutional Source

Beutler Lab

Gene Symbol

Mn1

Ensembl Gene

ENSMUSG00000070576

Gene Name

meningioma 1

Synonyms

MMRRC Submission

039940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1922 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

111565228-111604899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111566612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 194 (D194G)

Ref Sequence

ENSEMBL: ENSMUSP00000092034 (fasta)

Gene Model

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

AlphaFold

D3YWE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000094463
AA Change: D194G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092034
Gene: ENSMUSG00000070576
AA Change: D194G

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

1x: 97.5%
3x: 97.1%
10x: 95.8%
20x: 93.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,359,083 (GRCm39)	N574K	probably benign	Het
Adcy9	A	T	16: 4,129,521 (GRCm39)	L455H	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Amy1	T	A	3: 113,358,544 (GRCm39)	I163F	probably damaging	Het
Aoc1l2	A	C	6: 48,908,220 (GRCm39)	I407L	probably benign	Het
Armc5	A	G	7: 127,839,677 (GRCm39)	S332G	probably benign	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Chrna1	A	G	2: 73,398,576 (GRCm39)	S288P	probably damaging	Het
Cpe	T	A	8: 65,070,723 (GRCm39)	D174V	probably benign	Het
Dclre1c	T	C	2: 3,441,819 (GRCm39)	F235L	possibly damaging	Het
Ddx20	A	T	3: 105,585,900 (GRCm39)	V815D	probably damaging	Het
Dhx9	T	C	1: 153,336,020 (GRCm39)		probably null	Het
Dmxl2	A	C	9: 54,308,807 (GRCm39)	H1981Q	probably benign	Het
Doc2a	A	C	7: 126,450,603 (GRCm39)	D293A	probably damaging	Het
Eif2a	C	T	3: 58,455,951 (GRCm39)	R317C	probably damaging	Het
Fancc	A	G	13: 63,478,381 (GRCm39)	V318A	possibly damaging	Het
Fes	A	T	7: 80,033,734 (GRCm39)	Y172*	probably null	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Glul	G	A	1: 153,783,070 (GRCm39)	M214I	probably benign	Het
Gm14496	A	G	2: 181,642,797 (GRCm39)	I823V	probably benign	Het
Gm6665	T	C	18: 31,953,318 (GRCm39)	N50S	probably benign	Het
Gm6729	T	C	10: 86,376,782 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,408,350 (GRCm39)	C299S	probably damaging	Het
Hapln2	T	A	3: 87,930,684 (GRCm39)	N196Y	probably benign	Het
Hsd17b12	A	G	2: 93,875,737 (GRCm39)	V196A	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Kansl1	A	T	11: 104,234,466 (GRCm39)	L680Q	probably damaging	Het
Kcna3	T	C	3: 106,945,251 (GRCm39)	S505P	possibly damaging	Het
Klra1	A	C	6: 130,349,828 (GRCm39)	N203K	probably benign	Het
L3mbtl2	T	A	15: 81,559,822 (GRCm39)	I236N	probably damaging	Het
Mcm3ap	C	A	10: 76,343,195 (GRCm39)	P1696T	probably damaging	Het
Mecom	T	C	3: 30,011,591 (GRCm39)	D647G	probably damaging	Het
Muc5ac	A	G	7: 141,347,426 (GRCm39)	N407S	probably benign	Het
Mx2	C	T	16: 97,361,551 (GRCm39)	R584C	probably benign	Het
Myo1c	A	G	11: 75,559,055 (GRCm39)	R597G	probably benign	Het
Nav3	T	C	10: 109,541,467 (GRCm39)	D1932G	probably benign	Het
Nwd2	T	A	5: 63,951,585 (GRCm39)	D205E	probably benign	Het
Obi1	T	C	14: 104,716,622 (GRCm39)	K584E	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Osmr	T	C	15: 6,873,848 (GRCm39)	E183G	possibly damaging	Het
Peak1	A	T	9: 56,113,971 (GRCm39)	W627R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plekhg4	T	A	8: 106,105,017 (GRCm39)	L560Q	probably damaging	Het
Prg4	C	T	1: 150,325,750 (GRCm39)	W1217*	probably null	Het
Prkdc	A	G	16: 15,532,130 (GRCm39)	I1465V	probably benign	Het
Pus1	A	G	5: 110,925,505 (GRCm39)	F105S	probably damaging	Het
Ranbp3l	T	C	15: 9,057,206 (GRCm39)	S154P	probably damaging	Het
Rhbdl1	C	T	17: 26,054,513 (GRCm39)	G211S	probably damaging	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Sash1	T	A	10: 8,603,672 (GRCm39)	N1127Y	possibly damaging	Het
Setbp1	C	T	18: 78,901,577 (GRCm39)	E697K	possibly damaging	Het
Slc27a3	A	T	3: 90,293,624 (GRCm39)	V587E	probably benign	Het
Slc38a2	A	G	15: 96,589,043 (GRCm39)	F454L	possibly damaging	Het
Sprn	A	T	7: 139,733,458 (GRCm39)		probably benign	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tbc1d1	A	G	5: 64,468,564 (GRCm39)	E732G	probably damaging	Het
Tnfaip3	A	G	10: 18,879,355 (GRCm39)	F671S	possibly damaging	Het
Tor1aip2	C	A	1: 155,940,540 (GRCm39)	P282Q	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ttll2	A	T	17: 7,619,789 (GRCm39)	F46Y	probably damaging	Het
Ttn	A	G	2: 76,564,494 (GRCm39)	S28548P	probably damaging	Het
Tubb5	T	C	17: 36,146,190 (GRCm39)	Y340C	probably benign	Het
Usp32	A	T	11: 84,897,830 (GRCm39)	C1170*	probably null	Het
Usp54	G	T	14: 20,610,972 (GRCm39)	H1281Q	probably benign	Het
Vgll4	C	T	6: 114,898,296 (GRCm39)	G22S	probably benign	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Zdhhc5	A	T	2: 84,523,771 (GRCm39)	F225Y	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	possibly 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
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
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'- ATCCAGGTGCCTCATGTCTG -3'
(R):5'- CAGCATAATGTGGCAGCTGC -3'

Sequencing Primer
(F):5'- TGCCTCATGTCTGCACGG -3'
(R):5'- AGCTGCCCTTCAGAGTCAGAG -3'

Posted On

2014-07-14