Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Lhx1'

557593

Institutional Source

Beutler Lab

Gene Symbol

Lhx1

Ensembl Gene

ENSMUSG00000018698

Gene Name

LIM homeobox protein 1

Synonyms

Lim1

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84409110-84416361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84410698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 300 (P300S)

Ref Sequence

ENSEMBL: ENSMUSP00000018842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018842] [ENSMUST00000092827] [ENSMUST00000184646]

AlphaFold

P63006

Predicted Effect

probably damaging
Transcript: ENSMUST00000018842
AA Change: P300S

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

SMART Domains

Protein: ENSMUSP00000018842
Gene: ENSMUSG00000018698
AA Change: P300S

Domain	Start	End	E-Value	Type
LIM	3	54	5.51e-17	SMART
LIM	62	117	4.24e-18	SMART
low complexity region	137	156	N/A	INTRINSIC
HOX	180	242	1.33e-22	SMART
low complexity region	315	327	N/A	INTRINSIC
low complexity region	349	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092827

SMART Domains

Protein: ENSMUSP00000090503
Gene: ENSMUSG00000018698

Domain	Start	End	E-Value	Type
LIM	18	73	4.24e-18	SMART
low complexity region	93	112	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000184646
AA Change: P209S

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

SMART Domains

Protein: ENSMUSP00000138899
Gene: ENSMUSG00000018698
AA Change: P209S

Domain	Start	End	E-Value	Type
low complexity region	46	65	N/A	INTRINSIC
HOX	89	151	6.8e-25	SMART
low complexity region	224	236	N/A	INTRINSIC
low complexity region	258	276	N/A	INTRINSIC

Meta Mutation Damage Score

0.0805

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted null mutations are small, fail to develop head structures anterior to rhombomere 3 in the hindbrain, lack kidneys and gonads, and show aberrant trajectories of limb motor axons. Most mutants die around embryonic day 10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,964,968 (GRCm39)	Q443L	probably benign	Het
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Afdn	T	A	17: 14,109,208 (GRCm39)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,155,535 (GRCm39)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,456,534 (GRCm39)	E526G	probably damaging	Het
Car13	A	G	3: 14,710,268 (GRCm39)	D70G	probably benign	Het
Castor2	C	A	5: 134,164,029 (GRCm39)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,500,996 (GRCm39)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccr10	A	G	11: 101,065,104 (GRCm39)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,400 (GRCm39)	V1005M	probably benign	Het
Chil6	A	G	3: 106,301,728 (GRCm39)	I124T	probably benign	Het
Coq8a	A	G	1: 179,997,906 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,476 (GRCm39)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,844,209 (GRCm39)	V76A	possibly damaging	Het
Disp1	A	G	1: 182,869,189 (GRCm39)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah9	T	A	11: 65,746,198 (GRCm39)	K3972*	probably null	Het
Dnai4	G	A	4: 102,953,813 (GRCm39)	P129S	probably benign	Het
Dusp7	T	A	9: 106,246,114 (GRCm39)	S40T	unknown	Het
Emg1	T	C	6: 124,682,712 (GRCm39)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,752,043 (GRCm39)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,055,048 (GRCm39)	D167A	probably damaging	Het
Fes	A	T	7: 80,030,609 (GRCm39)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,223,234 (GRCm39)	G190R	probably damaging	Het
Gdf15	T	G	8: 71,083,992 (GRCm39)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,314,579 (GRCm39)	V355F	probably damaging	Het
Herc4	T	A	10: 63,144,194 (GRCm39)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,242,030 (GRCm39)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Itpr1	C	T	6: 108,363,601 (GRCm39)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,103,677 (GRCm39)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,944,483 (GRCm39)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,755,323 (GRCm39)	Y103H	probably damaging	Het
Knl1	A	G	2: 118,901,266 (GRCm39)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,102,200 (GRCm39)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,655,809 (GRCm39)	P138L	probably benign	Het
Mppe1	G	A	18: 67,362,842 (GRCm39)	A131V	probably benign	Het
Neb	A	T	2: 52,161,604 (GRCm39)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,708,546 (GRCm39)	F740L	probably benign	Het
Nop10	A	G	2: 112,092,391 (GRCm39)	N8S	probably benign	Het
Opalin	T	A	19: 41,058,374 (GRCm39)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,720,993 (GRCm39)	H175Q	probably benign	Het
Pask	C	T	1: 93,238,627 (GRCm39)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,948,716 (GRCm39)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,695,558 (GRCm39)	M463T	probably benign	Het
Pde6a	A	T	18: 61,414,596 (GRCm39)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,033,850 (GRCm39)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,050,658 (GRCm39)	N234S	probably damaging	Het
Ptprm	T	A	17: 67,116,622 (GRCm39)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,288,064 (GRCm39)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,553,707 (GRCm39)	I103F	probably damaging	Het
Rfc4	A	G	16: 22,934,183 (GRCm39)	I206T	probably benign	Het
Rhcg	A	G	7: 79,267,189 (GRCm39)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,945,803 (GRCm39)	I89V	probably benign	Het
Serac1	T	C	17: 6,115,351 (GRCm39)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,200,892 (GRCm39)	N175S	probably null	Het
Slc25a19	C	T	11: 115,507,373 (GRCm39)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,307,303 (GRCm39)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,534,126 (GRCm39)		probably benign	Het
Spats1	T	A	17: 45,760,095 (GRCm39)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,689 (GRCm39)	T219A	probably benign	Het
Spink13	A	G	18: 62,748,026 (GRCm39)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm39)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm39)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,300,633 (GRCm39)	*439Q	probably null	Het
Tmed2	T	A	5: 124,684,983 (GRCm39)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,637,470 (GRCm39)	Y370*	probably null	Het
Ttn	A	G	2: 76,642,588 (GRCm39)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,253,292 (GRCm39)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,030,695 (GRCm39)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,309,143 (GRCm39)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,223,251 (GRCm39)	L173P	probably benign	Het

Other mutations in Lhx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Lhx1	APN	11	84,410,478 (GRCm39)	missense	probably damaging	0.97
R1346:Lhx1	UTSW	11	84,412,905 (GRCm39)	missense	possibly damaging	0.55
R1565:Lhx1	UTSW	11	84,410,647 (GRCm39)	missense	probably benign	0.00
R1806:Lhx1	UTSW	11	84,414,967 (GRCm39)	missense	probably damaging	1.00
R2148:Lhx1	UTSW	11	84,410,647 (GRCm39)	missense	probably benign	0.00
R2449:Lhx1	UTSW	11	84,412,564 (GRCm39)	missense	probably damaging	1.00
R3721:Lhx1	UTSW	11	84,412,654 (GRCm39)	missense	probably damaging	1.00
R3793:Lhx1	UTSW	11	84,412,726 (GRCm39)	missense	probably benign	0.01
R4940:Lhx1	UTSW	11	84,410,735 (GRCm39)	nonsense	probably null
R5178:Lhx1	UTSW	11	84,411,214 (GRCm39)	missense	possibly damaging	0.69
R5877:Lhx1	UTSW	11	84,413,065 (GRCm39)	missense	probably damaging	1.00
R6366:Lhx1	UTSW	11	84,413,034 (GRCm39)	missense	probably damaging	1.00
R6551:Lhx1	UTSW	11	84,412,739 (GRCm39)	missense	probably benign	0.23
R7060:Lhx1	UTSW	11	84,411,108 (GRCm39)	critical splice donor site	probably null
R7106:Lhx1	UTSW	11	84,412,903 (GRCm39)	missense	probably benign	0.00
R7133:Lhx1	UTSW	11	84,410,746 (GRCm39)	missense	probably benign	0.00
R7290:Lhx1	UTSW	11	84,412,703 (GRCm39)	missense	probably damaging	0.96
R8843:Lhx1	UTSW	11	84,410,455 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CACCATTGACCGACAGAGATG -3'
(R):5'- TTTGTGCCAAGTGTCCAGC -3'

Sequencing Primer
(F):5'- AAGACCTCCGCTGACATGG -3'
(R):5'- AAGTGTCCAGCCTGCTCC -3'

Posted On

2019-06-26