Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Lmx1b'

213411

Institutional Source

Beutler Lab

Gene Symbol

Lmx1b

Ensembl Gene

ENSMUSG00000038765

Gene Name

LIM homeobox transcription factor 1 beta

Synonyms

GENA 191, LMX1.2, Icst

MMRRC Submission

039944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R1926 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

33450977-33530620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33454674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 365 (M365L)

Ref Sequence

ENSEMBL: ENSMUSP00000043616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041730]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041730
AA Change: M365L

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

SMART Domains

Protein: ENSMUSP00000043616
Gene: ENSMUSG00000038765
AA Change: M365L

Domain	Start	End	E-Value	Type
LIM	32	83	4.48e-17	SMART
LIM	91	145	5.51e-17	SMART
low complexity region	151	172	N/A	INTRINSIC
HOX	196	258	1.51e-21	SMART
low complexity region	259	272	N/A	INTRINSIC
low complexity region	328	340	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137559

SMART Domains

Protein: ENSMUSP00000115288
Gene: ENSMUSG00000038765

Domain	Start	End	E-Value	Type
LIM	9	63	5.51e-17	SMART
low complexity region	69	90	N/A	INTRINSIC
low complexity region	95	118	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176067
AA Change: M361L

SMART Domains

Protein: ENSMUSP00000134944
Gene: ENSMUSG00000038765
AA Change: M361L

Domain	Start	End	E-Value	Type
LIM	1	38	2.23e-3	SMART
LIM	46	100	5.51e-17	SMART
low complexity region	106	127	N/A	INTRINSIC
HOX	151	213	1.51e-21	SMART
low complexity region	214	227	N/A	INTRINSIC
low complexity region	290	302	N/A	INTRINSIC

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tshz3	T	C	7: 36,468,800 (GRCm39)	L263S	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	possibly damaging	Het

Other mutations in Lmx1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Lmx1b	APN	2	33,529,510 (GRCm39)	missense	possibly damaging	0.95
IGL01583:Lmx1b	APN	2	33,459,071 (GRCm39)	missense	probably benign	0.04
IGL02885:Lmx1b	APN	2	33,457,216 (GRCm39)	missense	probably benign	0.10
R3056:Lmx1b	UTSW	2	33,457,297 (GRCm39)	nonsense	probably null
R3522:Lmx1b	UTSW	2	33,529,543 (GRCm39)	missense	probably benign	0.01
R3957:Lmx1b	UTSW	2	33,459,106 (GRCm39)	missense	probably damaging	0.99
R4888:Lmx1b	UTSW	2	33,454,802 (GRCm39)	missense	probably benign	0.01
R6115:Lmx1b	UTSW	2	33,459,118 (GRCm39)	missense	probably damaging	0.96
R8254:Lmx1b	UTSW	2	33,455,126 (GRCm39)	missense
R8787:Lmx1b	UTSW	2	33,529,522 (GRCm39)	missense
RF032:Lmx1b	UTSW	2	33,530,501 (GRCm39)	nonsense	probably null
RF035:Lmx1b	UTSW	2	33,530,501 (GRCm39)	nonsense	probably null
RF038:Lmx1b	UTSW	2	33,530,521 (GRCm39)	start codon destroyed	probably null
RF043:Lmx1b	UTSW	2	33,530,521 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- TGACTGTCCAAGAGCTCTGG -3'
(R):5'- TTGCTGTCCAGAGCCAAGAC -3'

Sequencing Primer
(F):5'- TCACAAGGTCTCTGTGGGCAG -3'
(R):5'- TGACGGGAAGCTAGCCCTAG -3'

Posted On

2014-07-14