Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Lmntd2'

651594

Institutional Source

Beutler Lab

Gene Symbol

Lmntd2

Ensembl Gene

ENSMUSG00000025500

Gene Name

lamin tail domain containing 2

Synonyms

1600016N20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7988 (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 141213637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 112 (E112G)

Ref Sequence

ENSEMBL: ENSMUSP00000130905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026573] [ENSMUST00000046890] [ENSMUST00000047093] [ENSMUST00000070458] [ENSMUST00000084446] [ENSMUST00000127613] [ENSMUST00000133763] [ENSMUST00000141804] [ENSMUST00000148975] [ENSMUST00000153081] [ENSMUST00000170841] [ENSMUST00000209500] [ENSMUST00000210993]

AlphaFold

Q0VET5

Predicted Effect

probably damaging
Transcript: ENSMUST00000026573
AA Change: E112G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: E112G

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: ENSMUST00000046890

SMART Domains

Protein: ENSMUSP00000038444
Gene: ENSMUSG00000038618

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	215	N/A	INTRINSIC
low complexity region	217	244	N/A	INTRINSIC
coiled coil region	259	300	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: ENSMUST00000127613

Predicted Effect

probably benign
Transcript: ENSMUST00000133763

SMART Domains

Protein: ENSMUSP00000118313
Gene: ENSMUSG00000038618

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141804

SMART Domains

Protein: ENSMUSP00000115948
Gene: ENSMUSG00000038618

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	215	N/A	INTRINSIC
low complexity region	217	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148975

SMART Domains

Protein: ENSMUSP00000118078
Gene: ENSMUSG00000038618

Domain	Start	End	E-Value	Type
Blast:RA	6	35	5e-13	BLAST
PDB:2CS4\|A	7	35	2e-11	PDB
low complexity region	36	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153081

SMART Domains

Protein: ENSMUSP00000123128
Gene: ENSMUSG00000038618

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	199	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000170841
AA Change: E112G

SMART Domains

Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: E112G

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: ENSMUST00000209500

Predicted Effect

probably benign
Transcript: ENSMUST00000210993

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	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
R7847:Lmntd2	UTSW	7	141210150	missense	probably benign	0.07
R7926:Lmntd2	UTSW	7	141210345	missense	probably damaging	0.98
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'- GTAAACCCTAACAGGTCTGGGC -3'
(R):5'- ACCACAGGGCTCTGAAATTG -3'

Sequencing Primer
(F):5'- TAGGATGACATTTCCAGCACAG -3'
(R):5'- TGAAATTGCAGGTTAGCCCC -3'

Posted On

2020-09-15