Mutagenetix > Incidental Mutation

Incidental Mutation 'R8814:Lmntd2'

672610

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 #

R8814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141209992-141214080 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141210084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 672 (R672W)

Ref Sequence

ENSEMBL: ENSMUSP00000130905 (fasta)

Gene Model

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

AlphaFold

Q0VET5

Predicted Effect

probably damaging
Transcript: ENSMUST00000026573
AA Change: R662W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: R662W

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 damaging
Transcript: ENSMUST00000170841
AA Change: R672W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: R672W

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	C	6: 129,325,604		probably benign	Het
Brd7	A	G	8: 88,345,154	V361A	probably benign	Het
C6	A	T	15: 4,792,784	Q595L	probably benign	Het
Cacna2d3	T	A	14: 29,097,815	Y532F	probably damaging	Het
Cep85l	A	T	10: 53,348,969	Y175N	probably benign	Het
Clca3a2	G	T	3: 144,797,764	N808K	probably benign	Het
Cpsf4	T	G	5: 145,178,868	S201R	probably benign	Het
Crispld2	A	G	8: 120,015,345	H144R	possibly damaging	Het
Cyp1b1	T	C	17: 79,713,359	E318G	probably benign	Het
Fam109a	G	T	5: 121,853,045	V157L	probably benign	Het
Fer1l4	A	G	2: 156,052,243	F47L	probably benign	Het
Flnb	A	G	14: 7,927,409	D1873G	probably damaging	Het
Gm47995	A	G	1: 151,198,988	M181V	probably benign	Het
Hace1	A	G	10: 45,652,701	Y346C	probably damaging	Het
Hemgn	G	T	4: 46,400,717	Q48K	possibly damaging	Het
Hhip	T	C	8: 80,051,472	D143G	probably damaging	Het
Ift74	C	T	4: 94,662,636	Q342*	probably null	Het
Kng2	A	T	16: 23,004,011	I197N	probably benign	Het
Lcat	G	A	8: 105,941,970	P167S	probably damaging	Het
Mroh2b	G	T	15: 4,941,625	L1037F	possibly damaging	Het
Msh4	A	G	3: 153,872,320	S640P	probably damaging	Het
Mterf1b	T	C	5: 4,197,456	S366P	probably damaging	Het
Nrxn1	A	T	17: 90,630,101	C643S	probably damaging	Het
Olfr1164	T	A	2: 88,092,971	I322F	probably benign	Het
Olfr1496	T	A	19: 13,781,533	I305N	possibly damaging	Het
Olfr485	T	A	7: 108,159,065	K269N	probably benign	Het
Olfr605	A	G	7: 103,442,913	V70A	probably benign	Het
Olfr709-ps1	T	A	7: 106,926,818	I214F	probably damaging	Het
Pask	C	A	1: 93,320,585	R998L	probably benign	Het
Pcdh8	A	G	14: 79,768,897	L742P	probably benign	Het
Psma3	A	G	12: 70,978,806	E32G	probably benign	Het
Samd11	T	C	4: 156,247,884	E500G	probably benign	Het
Scarb1	A	T	5: 125,294,092	D305E	probably benign	Het
Serpinb6b	A	G	13: 32,978,304	H362R	possibly damaging	Het
Siglec1	G	A	2: 131,072,744	T1484M	probably damaging	Het
Slfn8	A	G	11: 83,016,679	V346A	possibly damaging	Het
Slitrk6	G	C	14: 110,749,938	A779G	probably benign	Het
Soga1	C	T	2: 157,030,531	W965*	probably null	Het
Sub1	A	C	15: 11,984,231	V124G	probably damaging	Het
Tbc1d32	A	G	10: 56,196,592	I277T	possibly damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Trim28	T	A	7: 13,028,527	N359K	probably damaging	Het
Tspan15	G	A	10: 62,188,056	T281M	probably benign	Het
Uaca	A	G	9: 60,866,398	N396D	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,458	S103P	probably damaging	Het
Vmn2r22	C	G	6: 123,637,830	R267T	probably damaging	Het
Vmn2r7	A	G	3: 64,716,563	I112T	probably benign	Het
Vmn2r70	T	A	7: 85,565,961	I122F	probably benign	Het
Vmn2r79	C	G	7: 87,002,506	T371S	probably benign	Het
Vps8	T	C	16: 21,576,650	L1230P	probably damaging	Het
Zfp26	A	T	9: 20,438,434	V278D	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
R7847:Lmntd2	UTSW	7	141210150	missense	probably benign	0.07
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
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'- CCTGGGAAGATTTGCAGGTTTC -3'
(R):5'- GGTCCAGGTAAGTGTGATGC -3'

Sequencing Primer
(F):5'- CCTTATGTGGGGGCAGTTCC -3'
(R):5'- TGGCCGGAGACACTTTGATC -3'

Posted On

2021-04-30