Mutagenetix > Incidental Mutation

Incidental Mutation 'R8487:Lmntd2'

657793

Institutional Source

Beutler Lab

Gene Symbol

Lmntd2

Ensembl Gene

ENSMUSG00000025500

Gene Name

lamin tail domain containing 2

Synonyms

1600016N20Rik

MMRRC Submission

067930-MU

Accession Numbers

Essential gene?

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

Stock #

R8487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140789905-140793993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140790427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 554 (H554Y)

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: H544Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: H544Y

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: H554Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: H554Y

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,565,122 (GRCm39)	I153V	probably benign	Het
Arhgap21	A	C	2: 20,886,116 (GRCm39)	S354A	probably benign	Het
Bcan	T	C	3: 87,896,516 (GRCm39)	T727A	probably damaging	Het
Brinp1	C	T	4: 68,747,692 (GRCm39)	G137E	probably damaging	Het
Catsperd	A	G	17: 56,970,419 (GRCm39)	Y697C	probably damaging	Het
Ccdc39	T	A	3: 33,886,808 (GRCm39)	K267*	probably null	Het
Ccdc47	C	A	11: 106,092,971 (GRCm39)	V92L	possibly damaging	Het
Cyp2c54	A	T	19: 40,059,990 (GRCm39)	I181N	probably damaging	Het
Ddx60	A	T	8: 62,427,184 (GRCm39)	D753V	probably damaging	Het
Dlg2	A	T	7: 91,935,796 (GRCm39)	K641N	probably damaging	Het
Eloa	G	A	4: 135,736,668 (GRCm39)	R527C	probably benign	Het
Fancd2	C	T	6: 113,545,187 (GRCm39)	P835L	probably damaging	Het
Fbln2	C	G	6: 91,227,846 (GRCm39)	T428S	probably damaging	Het
Fbn2	G	A	18: 58,153,462 (GRCm39)	A2600V	possibly damaging	Het
Gbe1	A	G	16: 70,233,876 (GRCm39)	Y251C	probably damaging	Het
Gnptab	T	A	10: 88,268,508 (GRCm39)		probably null	Het
Hspa1a	T	A	17: 35,191,033 (GRCm39)		probably benign	Het
Ifi204	G	A	1: 173,587,839 (GRCm39)	P107S	probably damaging	Het
Kif6	A	G	17: 49,978,164 (GRCm39)	I119V	probably damaging	Het
Lrrc8e	C	A	8: 4,284,218 (GRCm39)	H148N	probably damaging	Het
Lrriq1	T	C	10: 103,050,914 (GRCm39)	N613D	probably damaging	Het
Map4k4	C	T	1: 40,028,136 (GRCm39)	T319M	probably damaging	Het
Mbtps1	C	T	8: 120,268,413 (GRCm39)	V253I	probably damaging	Het
Mcm4	C	A	16: 15,450,042 (GRCm39)	C330F	probably damaging	Het
Mok	A	G	12: 110,776,341 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,577,321 (GRCm39)	C49R	probably damaging	Het
Nlrp4e	T	C	7: 23,020,983 (GRCm39)	V490A	probably benign	Het
Nsf	A	T	11: 103,819,584 (GRCm39)	F27I	probably damaging	Het
Or10g3b	A	T	14: 52,586,696 (GRCm39)	L269Q	probably damaging	Het
Or14c44	A	G	7: 86,061,647 (GRCm39)	S26G	probably benign	Het
Or4a47	T	C	2: 89,665,609 (GRCm39)	N227D	probably benign	Het
Or5p73	G	T	7: 108,064,784 (GRCm39)	M84I	possibly damaging	Het
Or6c66	A	G	10: 129,461,114 (GRCm39)	I272T	possibly damaging	Het
Pax1	A	G	2: 147,206,968 (GRCm39)	M1V	probably null	Het
Pcdhga12	A	G	18: 37,900,631 (GRCm39)	T488A	probably damaging	Het
Plekhh2	A	G	17: 84,864,909 (GRCm39)	D99G	possibly damaging	Het
Polr3h	T	C	15: 81,800,824 (GRCm39)	T173A	probably benign	Het
Pramel6	C	T	2: 87,339,045 (GRCm39)	L82F	probably damaging	Het
Ralgapa2	A	T	2: 146,230,463 (GRCm39)	I1034N	probably damaging	Het
Rbfox1	G	A	16: 7,042,319 (GRCm39)	V58I	probably damaging	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rev3l	T	A	10: 39,682,844 (GRCm39)	S321T	probably damaging	Het
Ryr1	T	C	7: 28,740,292 (GRCm39)	T3908A	probably damaging	Het
Secisbp2l	G	T	2: 125,617,502 (GRCm39)	Y58*	probably null	Het
Sgms1	C	A	19: 32,102,697 (GRCm39)	V337L	probably benign	Het
Slc38a2	G	A	15: 96,593,172 (GRCm39)	Q136*	probably null	Het
Smarcd1	T	A	15: 99,605,657 (GRCm39)	V296D	probably damaging	Het
Smcr8	A	C	11: 60,674,822 (GRCm39)	H866P	probably damaging	Het
Spcs1	T	A	14: 30,722,721 (GRCm39)	I33L	probably benign	Het
Stxbp5	T	C	10: 9,688,033 (GRCm39)	R423G	possibly damaging	Het
Syt4	A	T	18: 31,576,790 (GRCm39)	M188K	possibly damaging	Het
Tchhl1	A	G	3: 93,376,869 (GRCm39)	D22G	probably damaging	Het
Tiparp	T	A	3: 65,453,655 (GRCm39)	N134K	probably benign	Het
Topaz1	A	G	9: 122,579,001 (GRCm39)	D637G	possibly damaging	Het
Trav14d-3-dv8	A	T	14: 53,316,192 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,166 (GRCm39)	M240L	probably benign	Het
Vmn1r77	T	A	7: 11,775,514 (GRCm39)	S29T	probably damaging	Het
Vps13d	A	G	4: 144,881,817 (GRCm39)	F1253L	probably benign	Het
Zfp407	G	A	18: 84,580,895 (GRCm39)	R73*	probably null	Het
Zfp446	T	A	7: 12,716,555 (GRCm39)	F334I	possibly damaging	Het
Zfp654	A	T	16: 64,606,011 (GRCm39)	Y730*	probably null	Het

Other mutations in Lmntd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Lmntd2	APN	7	140,793,952 (GRCm39)	missense	probably damaging	1.00
IGL02444:Lmntd2	APN	7	140,791,832 (GRCm39)	missense	probably damaging	1.00
IGL02806:Lmntd2	APN	7	140,791,952 (GRCm39)	missense	probably benign
BB003:Lmntd2	UTSW	7	140,790,258 (GRCm39)	missense	probably damaging	0.98
BB013:Lmntd2	UTSW	7	140,790,258 (GRCm39)	missense	probably damaging	0.98
R0117:Lmntd2	UTSW	7	140,790,036 (GRCm39)	missense	possibly damaging	0.92
R0279:Lmntd2	UTSW	7	140,793,536 (GRCm39)	unclassified	probably benign
R1686:Lmntd2	UTSW	7	140,790,998 (GRCm39)	missense	probably damaging	1.00
R1970:Lmntd2	UTSW	7	140,791,972 (GRCm39)	unclassified	probably benign
R2324:Lmntd2	UTSW	7	140,790,701 (GRCm39)	missense	possibly damaging	0.62
R3429:Lmntd2	UTSW	7	140,793,910 (GRCm39)	missense	probably benign	0.05
R3928:Lmntd2	UTSW	7	140,791,117 (GRCm39)	missense	probably damaging	0.97
R4883:Lmntd2	UTSW	7	140,792,531 (GRCm39)	missense	probably damaging	1.00
R4985:Lmntd2	UTSW	7	140,793,190 (GRCm39)	missense	probably benign	0.00
R5219:Lmntd2	UTSW	7	140,791,387 (GRCm39)	splice site	probably null
R7172:Lmntd2	UTSW	7	140,793,554 (GRCm39)	missense	unknown
R7475:Lmntd2	UTSW	7	140,790,602 (GRCm39)	critical splice donor site	probably null
R7847:Lmntd2	UTSW	7	140,790,063 (GRCm39)	missense	probably benign	0.07
R7926:Lmntd2	UTSW	7	140,790,258 (GRCm39)	missense	probably damaging	0.98
R7988:Lmntd2	UTSW	7	140,793,550 (GRCm39)	missense	unknown
R8198:Lmntd2	UTSW	7	140,791,134 (GRCm39)	missense	possibly damaging	0.95
R8707:Lmntd2	UTSW	7	140,791,234 (GRCm39)	nonsense	probably null
R8814:Lmntd2	UTSW	7	140,789,997 (GRCm39)	missense	probably damaging	1.00
R8988:Lmntd2	UTSW	7	140,791,977 (GRCm39)	unclassified	probably benign
R9563:Lmntd2	UTSW	7	140,790,701 (GRCm39)	missense
R9564:Lmntd2	UTSW	7	140,790,701 (GRCm39)	missense
R9577:Lmntd2	UTSW	7	140,790,990 (GRCm39)	missense	probably benign	0.29
R9796:Lmntd2	UTSW	7	140,793,597 (GRCm39)	missense	possibly damaging	0.68
X0027:Lmntd2	UTSW	7	140,790,963 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ACCAAGACACAGTCTGGAGG -3'
(R):5'- TTCATCACCACAGAAGGGTCG -3'

Sequencing Primer
(F):5'- ACAGTCTGGAGGGACACTCTG -3'
(R):5'- CAAAGGATGCTGGGGCC -3'

Posted On

2021-01-18