Mutagenetix > Incidental Mutation

Incidental Mutation 'R7847:Lmntd2'

606685

Institutional Source

Beutler Lab

Gene Symbol

Lmntd2

Ensembl Gene

ENSMUSG00000025500

Gene Name

lamin tail domain containing 2

Synonyms

1600016N20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141209992-141214080 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141210150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 650 (N650D)

Ref Sequence

ENSEMBL: ENSMUSP00000130905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026573] [ENSMUST00000047093] [ENSMUST00000070458] [ENSMUST00000084446] [ENSMUST00000170841] [ENSMUST00000209220]

AlphaFold

Q0VET5

Predicted Effect

probably benign
Transcript: ENSMUST00000026573
AA Change: N640D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: N640D

Domain	Start	End	E-Value	Type
coiled coil region	114	170	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:LTD	375	482	1.3e-13	PFAM
low complexity region	567	578	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047093

SMART Domains

Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_4	138	177	9.1e-8	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC
low complexity region	390	404	N/A	INTRINSIC
low complexity region	449	458	N/A	INTRINSIC
low complexity region	474	496	N/A	INTRINSIC
low complexity region	523	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070458

SMART Domains

Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_7	116	132	4e-2	PFAM
Pfam:LRR_8	116	171	8.7e-8	PFAM
Pfam:LRR_4	117	158	7.2e-11	PFAM
Pfam:LRR_1	139	159	2.9e-2	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC
low complexity region	390	404	N/A	INTRINSIC
low complexity region	449	458	N/A	INTRINSIC
low complexity region	474	496	N/A	INTRINSIC
low complexity region	523	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084446

SMART Domains

Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_7	116	132	3.5e-2	PFAM
Pfam:LRR_8	116	171	6.9e-8	PFAM
Pfam:LRR_4	117	158	6.7e-11	PFAM
Pfam:LRR_6	136	160	5.9e-2	PFAM
Pfam:LRR_1	139	159	2.6e-2	PFAM
Pfam:LRR_6	157	182	4.1e-2	PFAM
Pfam:LRR_1	161	199	5.9e-2	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170841
AA Change: N650D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: N650D

Domain	Start	End	E-Value	Type
coiled coil region	124	180	N/A	INTRINSIC
low complexity region	296	308	N/A	INTRINSIC
SCOP:d1ifra_	385	487	1e-22	SMART
low complexity region	577	588	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209220

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,568,652	Y296N	probably benign	Het
Abcc4	T	C	14: 118,627,480	E378G	probably damaging	Het
Acp2	C	T	2: 91,210,732	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,851,956	C205Y	probably damaging	Het
Alg9	T	C	9: 50,789,605	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,669,908	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,275,135	S940*	probably null	Het
Asb15	C	A	6: 24,564,267	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160		probably benign	Het
Ccdc17	A	G	4: 116,599,906	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,897,760	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,215,295	S391P	probably benign	Het
Dock6	A	T	9: 21,801,207	L2086Q	unknown	Het
Ephx1	A	G	1: 181,001,861	S41P	probably benign	Het
Erbb3	G	A	10: 128,571,189	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,772,738		probably benign	Het
Golgb1	A	G	16: 36,931,920	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,260,978	P52L	possibly damaging	Het
Herc2	T	C	7: 56,157,560		probably null	Het
Il17rb	A	G	14: 29,996,806	Y440H	probably damaging	Het
Kcng4	A	G	8: 119,626,142	L343P	probably damaging	Het
Knl1	G	A	2: 119,070,976	E1053K	probably benign	Het
Lipo4	A	T	19: 33,514,199	V128E	possibly damaging	Het
Lrrfip2	T	C	9: 111,213,880	L460P	probably damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mtcl1	T	C	17: 66,344,333	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,357,452	A256T	probably benign	Het
Mup17	T	A	4: 61,593,219	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,660,053	D175E	probably damaging	Het
Nup210l	A	G	3: 90,151,123	M610V	probably benign	Het
Olfr1338	G	T	4: 118,754,368	H59N	possibly damaging	Het
Olfr1354	T	A	10: 78,916,896	S19T	probably benign	Het
Olfr955	A	G	9: 39,470,505	S74P	probably benign	Het
Pard3b	A	G	1: 62,343,934	D729G	probably benign	Het
Phactr1	T	C	13: 43,057,188	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655	S762R	probably damaging	Het
Senp5	C	T	16: 31,990,173	V88I	probably benign	Het
Specc1l	T	C	10: 75,309,836	V1105A	probably damaging	Het
Trak2	A	C	1: 58,935,818	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,675,674		probably null	Het
Ush2a	G	A	1: 188,430,808	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,420,197	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,161,548	F2L	probably benign	Het
Xirp1	G	T	9: 120,019,753	D21E	possibly damaging	Het
Zfp114	C	A	7: 24,181,035	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,634,194	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,964,418	H237Q	probably benign	Het

Other mutations in Lmntd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Lmntd2	APN	7	141214039	missense	probably damaging	1.00
IGL02444:Lmntd2	APN	7	141211919	missense	probably damaging	1.00
IGL02806:Lmntd2	APN	7	141212039	missense	probably benign
BB003:Lmntd2	UTSW	7	141210345	missense	probably damaging	0.98
BB013:Lmntd2	UTSW	7	141210345	missense	probably damaging	0.98
R0117:Lmntd2	UTSW	7	141210123	missense	possibly damaging	0.92
R0279:Lmntd2	UTSW	7	141213623	unclassified	probably benign
R1686:Lmntd2	UTSW	7	141211085	missense	probably damaging	1.00
R1970:Lmntd2	UTSW	7	141212059	unclassified	probably benign
R2324:Lmntd2	UTSW	7	141210788	missense	possibly damaging	0.62
R3429:Lmntd2	UTSW	7	141213997	missense	probably benign	0.05
R3928:Lmntd2	UTSW	7	141211204	missense	probably damaging	0.97
R4883:Lmntd2	UTSW	7	141212618	missense	probably damaging	1.00
R4985:Lmntd2	UTSW	7	141213277	missense	probably benign	0.00
R5219:Lmntd2	UTSW	7	141211474	splice site	probably null
R7172:Lmntd2	UTSW	7	141213641	missense	unknown
R7475:Lmntd2	UTSW	7	141210689	critical splice donor site	probably null
R7926:Lmntd2	UTSW	7	141210345	missense	probably damaging	0.98
R7988:Lmntd2	UTSW	7	141213637	missense	unknown
R8198:Lmntd2	UTSW	7	141211221	missense	possibly damaging	0.95
R8487:Lmntd2	UTSW	7	141210514	missense	probably benign
R8707:Lmntd2	UTSW	7	141211321	nonsense	probably null
R8814:Lmntd2	UTSW	7	141210084	missense	probably damaging	1.00
R8988:Lmntd2	UTSW	7	141212064	unclassified	probably benign
R9563:Lmntd2	UTSW	7	141210788	missense
R9564:Lmntd2	UTSW	7	141210788	missense
R9577:Lmntd2	UTSW	7	141211077	missense	probably benign	0.29
R9796:Lmntd2	UTSW	7	141213684	missense	possibly damaging	0.68
X0027:Lmntd2	UTSW	7	141211050	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AGTTCCTTTCTGTTGGGACACC -3'
(R):5'- CAGACTGTGTCTTGGTGAGGAC -3'

Sequencing Primer
(F):5'- GCGAATCATTTTCAACTCTCAGG -3'
(R):5'- CTCACTGGGTAGGCAGGAGTAC -3'

Posted On

2019-12-20