Mutagenetix > Incidental Mutation

Incidental Mutation 'R8899:Lhx8'

679818

Institutional Source

Beutler Lab

Gene Symbol

Lhx8

Ensembl Gene

ENSMUSG00000096225

Gene Name

LIM homeobox protein 8

Synonyms

L3, Lhx7

MMRRC Submission

068756-MU

Accession Numbers

Essential gene?

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

Stock #

R8899 (G1)

Quality Score

195.009

Status

Validated

Chromosome

Chromosomal Location

154011925-154036190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154033653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 51 (Y51H)

Ref Sequence

ENSEMBL: ENSMUSP00000144708 (fasta)

Gene Model

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

AlphaFold

O35652

Predicted Effect

SMART Domains

Protein: ENSMUSP00000136047
Gene: ENSMUSG00000096225
AA Change: Y107H

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

probably damaging
Transcript: ENSMUST00000204171
AA Change: Y51H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144708
Gene: ENSMUSG00000096225
AA Change: Y51H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204403
AA Change: Y76H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145516
Gene: ENSMUSG00000096225
AA Change: Y76H

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: Y76H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145485
Gene: ENSMUSG00000096225
AA Change: Y76H

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

Meta Mutation Damage Score

0.3042

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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
Agxt2	A	T	15: 10,378,900 (GRCm39)	N167I	probably damaging	Het
Arel1	A	G	12: 84,981,017 (GRCm39)	I330T	probably benign	Het
Ate1	T	C	7: 129,996,389 (GRCm39)	K484E	possibly damaging	Het
Atl2	T	C	17: 80,183,469 (GRCm39)	D42G	probably benign	Het
Bltp1	T	C	3: 37,042,429 (GRCm39)	I2805T	probably damaging	Het
Cd209e	C	T	8: 3,901,212 (GRCm39)	W147*	probably null	Het
Cdc40	G	A	10: 40,717,809 (GRCm39)	Q365*	probably null	Het
Cenpe	A	G	3: 134,945,644 (GRCm39)	T1053A	probably benign	Het
Colgalt1	T	C	8: 72,076,306 (GRCm39)	S586P	probably damaging	Het
Crem	A	G	18: 3,295,370 (GRCm39)	I91T	probably damaging	Het
Csrnp3	G	A	2: 65,852,987 (GRCm39)	V460I	possibly damaging	Het
Cul1	T	A	6: 47,474,246 (GRCm39)	I136N	possibly damaging	Het
Ddx19b	A	T	8: 111,737,929 (GRCm39)	I273N	probably damaging	Het
Fap	A	G	2: 62,348,817 (GRCm39)	I505T	probably damaging	Het
Fbxo44	A	T	4: 148,238,078 (GRCm39)	Y216*	probably null	Het
Fbxw10	T	A	11: 62,748,567 (GRCm39)	M398K	probably damaging	Het
Fut10	T	C	8: 31,726,514 (GRCm39)	V423A	possibly damaging	Het
Fyco1	A	C	9: 123,655,646 (GRCm39)	D1037E	probably benign	Het
Gabrg2	G	A	11: 41,867,377 (GRCm39)	R81*	probably null	Het
Gcn1	T	C	5: 115,717,220 (GRCm39)	V204A	probably benign	Het
Gnl1	T	C	17: 36,299,608 (GRCm39)	L593P	probably damaging	Het
Grm4	T	C	17: 27,653,754 (GRCm39)	Q732R	probably damaging	Het
Icam5	T	C	9: 20,948,415 (GRCm39)	V741A	possibly damaging	Het
Iqub	C	T	6: 24,505,768 (GRCm39)	E47K	probably benign	Het
Kcnk3	A	G	5: 30,779,580 (GRCm39)	K210R	probably benign	Het
Kdm2b	T	A	5: 123,125,851 (GRCm39)	R12*	probably null	Het
Kifbp	T	C	10: 62,399,282 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi1	C	T	19: 38,294,538 (GRCm39)	H413Y	probably damaging	Het
Lim2	T	C	7: 43,083,055 (GRCm39)	I80T	probably benign	Het
Macf1	A	G	4: 123,368,852 (GRCm39)	F405L	probably benign	Het
Mefv	G	A	16: 3,528,764 (GRCm39)	T559I	probably damaging	Het
Nin	A	G	12: 70,077,710 (GRCm39)	W1739R	probably damaging	Het
Or10h1	A	T	17: 33,418,718 (GRCm39)	K232M	probably damaging	Het
Or11j4	T	C	14: 50,630,269 (GRCm39)	F19L	probably damaging	Het
Or5t16	A	G	2: 86,818,710 (GRCm39)	I270T	probably benign	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Otop3	T	C	11: 115,231,886 (GRCm39)		probably null	Het
Pate9	A	T	9: 36,446,254 (GRCm39)	C53S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,082 (GRCm39)	I247V	probably benign	Het
Polr2d	T	A	18: 31,922,226 (GRCm39)	M1K	probably null	Het
Prss53	T	C	7: 127,488,193 (GRCm39)	T141A	possibly damaging	Het
Rdh12	A	G	12: 79,268,802 (GRCm39)	N293S	probably benign	Het
Rnf146	G	A	10: 29,223,754 (GRCm39)	T44I	probably benign	Het
Rsbn1l	A	T	5: 21,101,865 (GRCm39)	C588S	probably damaging	Het
Septin8	G	A	11: 53,426,862 (GRCm39)	V208I	probably damaging	Het
Sgo2a	T	G	1: 58,058,822 (GRCm39)	S1134A	possibly damaging	Het
Sh3bp4	C	T	1: 89,073,297 (GRCm39)	T715I	probably benign	Het
Snrnp200	A	G	2: 127,078,517 (GRCm39)	T1758A	probably damaging	Het
Snx6	A	T	12: 54,812,423 (GRCm39)	D70E	probably benign	Het
Spag9	T	C	11: 93,983,695 (GRCm39)	S341P	probably damaging	Het
Sparcl1	T	C	5: 104,240,590 (GRCm39)	D278G	probably benign	Het
Spmap2l	T	A	5: 77,185,200 (GRCm39)		probably null	Het
Srbd1	T	A	17: 86,292,885 (GRCm39)	S895C		Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tas2r136	T	C	6: 132,754,323 (GRCm39)	D268G	probably benign	Het
Tas2r143	T	A	6: 42,377,888 (GRCm39)	Y239*	probably null	Het
Tbc1d17	C	T	7: 44,492,328 (GRCm39)	G419D	probably damaging	Het
Tff2	C	T	17: 31,362,113 (GRCm39)	W68*	probably null	Het
Thop1	T	C	10: 80,916,440 (GRCm39)	C483R	probably damaging	Het
Tmem245	A	C	4: 56,903,916 (GRCm39)		probably null	Het
Tmem67	A	G	4: 12,055,038 (GRCm39)	F655S	probably damaging	Het
Trim36	T	G	18: 46,302,264 (GRCm39)	S583R	possibly damaging	Het
Ucp1	T	C	8: 84,017,216 (GRCm39)	V2A	probably benign	Het
Ugt1a6a	T	A	1: 88,066,803 (GRCm39)	M203K	probably damaging	Het
Usp1	A	G	4: 98,819,347 (GRCm39)	K270E	probably damaging	Het
Vps13c	T	C	9: 67,841,783 (GRCm39)	F1935S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp799	G	T	17: 33,039,348 (GRCm39)	P306Q	probably damaging	Het
Zfp831	A	T	2: 174,485,978 (GRCm39)	R218W	probably damaging	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
R5223:Lhx8	UTSW	3	154,027,281 (GRCm39)	missense	probably damaging	1.00
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
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'- AGTCCTCCGCACACTCTTGG -3'
(R):5'- ACGTGAAAGGCCAGTGCTC -3'

Sequencing Primer
(F):5'- GGAACCCTCATTTACACTGTAGAC -3'
(R):5'- CAGTGCTCGGCTGTTCCTG -3'

Posted On

2021-08-31