Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Lhx8'

402414

Institutional Source

Beutler Lab

Gene Symbol

Lhx8

Ensembl Gene

ENSMUSG00000096225

Gene Name

LIM homeobox protein 8

Synonyms

L3, Lhx7

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154011925-154036190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154027281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 254 (T254S)

Ref Sequence

ENSEMBL: ENSMUSP00000136047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177846] [ENSMUST00000204171] [ENSMUST00000204403] [ENSMUST00000205251]

AlphaFold

O35652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168508
AA Change: H217L

Predicted Effect

probably damaging
Transcript: ENSMUST00000177846
AA Change: T254S

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

SMART Domains

Protein: ENSMUSP00000136047
Gene: ENSMUSG00000096225
AA Change: T254S

Domain	Start	End	E-Value	Type
low complexity region	67	87	N/A	INTRINSIC
LIM	95	148	2.38e-12	SMART
LIM	156	210	2.06e-16	SMART
HOX	246	308	2.7e-23	SMART
low complexity region	310	321	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203692

Predicted Effect

probably benign
Transcript: ENSMUST00000204171

SMART Domains

Protein: ENSMUSP00000144708
Gene: ENSMUSG00000096225

Domain	Start	End	E-Value	Type
low complexity region	11	31	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204403

SMART Domains

Protein: ENSMUSP00000145516
Gene: ENSMUSG00000096225

Domain	Start	End	E-Value	Type
low complexity region	36	56	N/A	INTRINSIC
LIM	64	117	2.38e-12	SMART
LIM	125	179	2.06e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000205251
AA Change: T223S

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

SMART Domains

Protein: ENSMUSP00000145485
Gene: ENSMUSG00000096225
AA Change: T223S

Domain	Start	End	E-Value	Type
low complexity region	36	56	N/A	INTRINSIC
LIM	64	117	2.38e-12	SMART
LIM	125	179	2.06e-16	SMART
HOX	215	277	2.7e-23	SMART
low complexity region	279	290	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice exhibit partial penetrance of a cleft secondary palate and neonatal lethality; those without cleft palate survive to adulthood. All homozygous null mice have decreased or absent forebrain cholinergic neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,904,278 (GRCm39)	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,880,398 (GRCm39)		probably null	Het
Acvr1b	T	A	15: 101,091,857 (GRCm39)	C46S	probably damaging	Het
Ahi1	A	T	10: 20,846,818 (GRCm39)	H416L	possibly damaging	Het
Aspm	T	A	1: 139,406,072 (GRCm39)	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 85,313,824 (GRCm39)	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 57,940,267 (GRCm39)	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Cyp2a12	A	T	7: 26,735,888 (GRCm39)		probably null	Het
Dnai4	T	A	4: 102,906,600 (GRCm39)	S738C	possibly damaging	Het
Ep400	A	G	5: 110,816,496 (GRCm39)	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,552,929 (GRCm39)		probably null	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpnmb	C	T	6: 49,033,139 (GRCm39)	T539M	probably benign	Het
Hdac1-ps	A	G	17: 78,799,867 (GRCm39)	E286G	probably benign	Het
Hspa9	A	G	18: 35,085,724 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,271,225 (GRCm39)	L2454P	probably damaging	Het
Ift140	T	A	17: 25,254,786 (GRCm39)	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,051,207 (GRCm39)	S50G	probably benign	Het
Il23r	T	A	6: 67,463,154 (GRCm39)	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,793,434 (GRCm39)	D636G	probably benign	Het
Klhl41	G	A	2: 69,510,171 (GRCm39)	W569*	probably null	Het
Klra4	T	A	6: 130,039,110 (GRCm39)	D94V	probably damaging	Het
Lca5	T	A	9: 83,280,666 (GRCm39)	H378L	probably benign	Het
Lrch3	C	T	16: 32,734,767 (GRCm39)	R86W	probably damaging	Het
Lrp2	T	A	2: 69,354,397 (GRCm39)	N477I	probably damaging	Het
Man2a1	T	A	17: 65,019,266 (GRCm39)	I710K	probably benign	Het
Ncor1	A	T	11: 62,229,826 (GRCm39)	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,402,074 (GRCm39)	V1100E	probably damaging	Het
Oprk1	T	C	1: 5,659,519 (GRCm39)	V83A	probably benign	Het
Or4p8	T	C	2: 88,727,678 (GRCm39)	T88A	probably benign	Het
Or5p62	A	G	7: 107,771,915 (GRCm39)	V12A	probably benign	Het
Or7g35	T	C	9: 19,496,322 (GRCm39)	V163A	probably benign	Het
Pacs1	C	T	19: 5,195,169 (GRCm39)	V472I	probably benign	Het
Pard3b	T	C	1: 62,383,272 (GRCm39)	Y789H	probably damaging	Het
Pcdha2	T	C	18: 37,073,844 (GRCm39)	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,216,106 (GRCm39)	N2261D	probably damaging	Het
Pex5l	A	T	3: 33,012,945 (GRCm39)	S15T	probably damaging	Het
Plekhg4	A	G	8: 106,105,581 (GRCm39)	N682S	probably benign	Het
Poc5	A	T	13: 96,539,463 (GRCm39)	M335L	probably benign	Het
Polr1a	C	T	6: 71,944,891 (GRCm39)	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,814,873 (GRCm39)	H617R	probably benign	Het
Pramel24	T	A	4: 143,454,591 (GRCm39)	S296R	probably benign	Het
Prpsap1	T	C	11: 116,378,974 (GRCm39)	K65E	probably benign	Het
Ptgfrn	T	C	3: 100,952,909 (GRCm39)	E775G	probably benign	Het
Ptprc	T	A	1: 138,045,600 (GRCm39)	I87F	probably benign	Het
Rbbp8	C	A	18: 11,854,747 (GRCm39)	A324E	probably benign	Het
Rfx6	G	T	10: 51,554,092 (GRCm39)	G63*	probably null	Het
Rpl37a	T	C	1: 72,751,308 (GRCm39)	M47T	probably benign	Het
Samm50	T	G	15: 84,084,831 (GRCm39)	N187K	probably benign	Het
Skic2	A	G	17: 35,064,142 (GRCm39)		probably null	Het
Slamf9	T	C	1: 172,303,799 (GRCm39)	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,577,931 (GRCm39)	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,083,710 (GRCm39)	G388S	probably damaging	Het
Smtn	G	T	11: 3,479,530 (GRCm39)	N512K	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sspo	A	G	6: 48,455,258 (GRCm39)	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,183,401 (GRCm39)	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,872,161 (GRCm39)	M227K	probably damaging	Het
Thsd4	T	C	9: 59,964,325 (GRCm39)	D389G	probably damaging	Het
Tnxb	T	C	17: 34,923,052 (GRCm39)	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,142,589 (GRCm39)	I712F	probably damaging	Het
Trim62	T	C	4: 128,803,204 (GRCm39)	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,771,224 (GRCm39)	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r66	T	C	7: 84,657,093 (GRCm39)	D104G	probably benign	Het
Wdr26	T	C	1: 181,015,251 (GRCm39)	I371V	probably benign	Het
Zfp273	T	G	13: 67,974,298 (GRCm39)	C475W	probably damaging	Het
Zfp738	G	T	13: 67,821,182 (GRCm39)	T55K	probably damaging	Het
Zmym2	A	G	14: 57,183,971 (GRCm39)	I978V	probably benign	Het

Other mutations in Lhx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01806:Lhx8	APN	3	154,027,992 (GRCm39)	missense	probably damaging	1.00
IGL01991:Lhx8	APN	3	154,030,191 (GRCm39)	missense	probably damaging	1.00
R0463:Lhx8	UTSW	3	154,033,808 (GRCm39)	splice site	probably null
R1449:Lhx8	UTSW	3	154,033,742 (GRCm39)	nonsense	probably null
R1837:Lhx8	UTSW	3	154,033,692 (GRCm39)	missense	possibly damaging	0.94
R2272:Lhx8	UTSW	3	154,022,399 (GRCm39)	missense	probably damaging	1.00
R3196:Lhx8	UTSW	3	154,035,925 (GRCm39)	missense	probably benign	0.05
R4900:Lhx8	UTSW	3	154,035,925 (GRCm39)	missense	probably benign	0.01
R5120:Lhx8	UTSW	3	154,017,332 (GRCm39)	missense	probably damaging	0.99
R5587:Lhx8	UTSW	3	154,017,316 (GRCm39)	missense	probably damaging	0.99
R6046:Lhx8	UTSW	3	154,027,340 (GRCm39)	missense	probably damaging	1.00
R7155:Lhx8	UTSW	3	154,030,221 (GRCm39)	missense	possibly damaging	0.82
R7800:Lhx8	UTSW	3	154,027,284 (GRCm39)	missense	probably damaging	1.00
R7834:Lhx8	UTSW	3	154,017,174 (GRCm39)	missense	probably null	0.00
R8039:Lhx8	UTSW	3	154,012,576 (GRCm39)	missense	probably damaging	0.98
R8373:Lhx8	UTSW	3	154,030,295 (GRCm39)	missense	probably damaging	1.00
R8768:Lhx8	UTSW	3	154,027,886 (GRCm39)	missense	possibly damaging	0.80
R8899:Lhx8	UTSW	3	154,033,653 (GRCm39)	missense	probably damaging	0.99
R8938:Lhx8	UTSW	3	154,028,024 (GRCm39)	missense	possibly damaging	0.74
R9135:Lhx8	UTSW	3	154,034,063 (GRCm39)	missense	probably benign
R9488:Lhx8	UTSW	3	154,033,764 (GRCm39)	missense	possibly damaging	0.49
X0028:Lhx8	UTSW	3	154,030,212 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCTTTCAAGGCAGTTAAGTACAC -3'
(R):5'- GTGCATTGCAAGAGGCCAAG -3'

Sequencing Primer
(F):5'- AGTACACATTAACACTCTCGTGG -3'
(R):5'- CATTGCAAGAGGCCAAGGTGTG -3'

Posted On

2016-07-22