Mutagenetix > Incidental Mutation

Incidental Mutation 'R9297:Msx1'

704650

Institutional Source

Beutler Lab

Gene Symbol

Msx1

Ensembl Gene

ENSMUSG00000048450

Gene Name

msh homeobox 1

Synonyms

Hox7.1, Hox7, Hox-7, msh, muscle-segment homeobox

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9297 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

37977835-37981929 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 37981756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000058354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063116]

AlphaFold

P13297

PDB Structure

Msx-1 Homeodomain/DNA Complex Structure [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000063116

SMART Domains

Protein: ENSMUSP00000058354
Gene: ENSMUSG00000048450

Domain	Start	End	E-Value	Type
low complexity region	22	50	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
HOX	172	234	1.37e-24	SMART
low complexity region	237	250	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants affect craniofacial neural crest-derived mesenchyme by controlling cell cycle progression. Homozygous null mutants die at birth with multiple craniofacial defects including cleft palate, reduced mandible and maxilla, and retarded tooth development. [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
Adamts1	T	C	16: 85,599,534 (GRCm39)	Q22R	probably benign	Het
Adamts20	A	G	15: 94,301,321 (GRCm39)	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,491,466 (GRCm39)	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,299,081 (GRCm39)	M1594R	unknown	Het
Alkbh3	A	G	2: 93,835,082 (GRCm39)	S88P	probably damaging	Het
Angpt1	A	G	15: 42,301,751 (GRCm39)	I419T	probably benign	Het
Ankrd31	A	T	13: 97,015,085 (GRCm39)	L1451F	probably benign	Het
Ap1b1	T	C	11: 4,990,157 (GRCm39)	I860T	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Astn2	T	C	4: 65,460,960 (GRCm39)	D1058G	possibly damaging	Het
Atg3	A	G	16: 44,987,371 (GRCm39)	H48R	possibly damaging	Het
Bnc2	A	C	4: 84,474,136 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,496,887 (GRCm39)	Y453H	probably benign	Het
Catsperg1	T	C	7: 28,891,085 (GRCm39)	T653A	probably benign	Het
Ccdc102a	A	G	8: 95,638,120 (GRCm39)	S249P	possibly damaging	Het
Ccdc125	A	G	13: 100,832,920 (GRCm39)	Y499C	probably damaging	Het
Ccdc141	A	G	2: 76,842,028 (GRCm39)	F1468L	probably benign	Het
Ccdc162	C	A	10: 41,506,110 (GRCm39)	M893I	probably benign	Het
Ccdc33	C	A	9: 57,993,876 (GRCm39)	W335L	possibly damaging	Het
Chn2	T	A	6: 54,272,840 (GRCm39)	Y355N	probably damaging	Het
Clec4g	A	G	8: 3,766,500 (GRCm39)	M267T	probably damaging	Het
Cpa6	A	T	1: 10,554,273 (GRCm39)	D111E	possibly damaging	Het
Crlf3	A	G	11: 79,950,031 (GRCm39)	C200R	probably damaging	Het
Cyp4a10	T	C	4: 115,378,375 (GRCm39)	S164P	probably damaging	Het
Def6	A	G	17: 28,436,714 (GRCm39)	N126S	probably damaging	Het
Diaph1	G	A	18: 38,022,828 (GRCm39)	T782I	probably benign	Het
Dnah5	A	C	15: 28,204,054 (GRCm39)		probably benign	Het
Eme1	A	T	11: 94,541,614 (GRCm39)	S69R	probably benign	Het
Fat3	A	T	9: 15,908,996 (GRCm39)	D2335E	probably damaging	Het
Fstl4	A	G	11: 53,024,973 (GRCm39)	K282E	possibly damaging	Het
Galnt7	T	C	8: 57,995,555 (GRCm39)	E380G	probably damaging	Het
Gm973	A	T	1: 59,583,829 (GRCm39)	Y204F	probably damaging	Het
Hace1	T	A	10: 45,528,769 (GRCm39)	S337T	probably benign	Het
Ipo8	C	A	6: 148,703,076 (GRCm39)	C416F	possibly damaging	Het
Kcnt2	T	C	1: 140,352,933 (GRCm39)	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,411,275 (GRCm39)	L203I	probably benign	Het
Kif26b	C	T	1: 178,543,374 (GRCm39)	Q336*	probably null	Het
Krt36	A	G	11: 99,994,271 (GRCm39)	Y269H	probably damaging	Het
Lamc1	G	T	1: 153,127,746 (GRCm39)	R386S	probably damaging	Het
Lipc	T	A	9: 70,727,736 (GRCm39)	D122V	probably damaging	Het
Lrba	A	G	3: 86,280,873 (GRCm39)	T1841A	probably damaging	Het
Lrit1	T	A	14: 36,783,993 (GRCm39)	D440E	probably damaging	Het
Map4	T	C	9: 109,882,480 (GRCm39)	I448T	probably benign	Het
Megf8	G	T	7: 25,030,511 (GRCm39)	C488F	probably damaging	Het
Mllt6	A	G	11: 97,563,314 (GRCm39)	E299G	probably damaging	Het
Mpst	G	T	15: 78,294,642 (GRCm39)	V125L	probably damaging	Het
Muc2	A	G	7: 141,302,759 (GRCm39)	E473G		Het
Myo15a	A	G	11: 60,385,899 (GRCm39)	R602G	probably null	Het
Myod1	A	T	7: 46,026,356 (GRCm39)	H87L	probably damaging	Het
Nid1	T	C	13: 13,650,897 (GRCm39)	V478A	possibly damaging	Het
Obscn	A	T	11: 58,898,359 (GRCm39)	I6634N	unknown	Het
Or52ab7	T	A	7: 102,978,583 (GRCm39)	Y297N	probably damaging	Het
Or52e7	T	C	7: 104,684,830 (GRCm39)	Y142H	probably damaging	Het
Or8k22	A	G	2: 86,163,188 (GRCm39)	Y171H	probably benign	Het
Pdgfrl	C	T	8: 41,391,268 (GRCm39)	S66F	probably damaging	Het
Phf20	G	A	2: 156,115,690 (GRCm39)	R337H	probably benign	Het
Pkhd1	T	A	1: 20,293,118 (GRCm39)	Y2834F	probably benign	Het
Plekhg4	A	C	8: 106,105,907 (GRCm39)	E768A	probably damaging	Het
Prss37	A	T	6: 40,491,909 (GRCm39)	Y224N	probably damaging	Het
Ptprs	A	T	17: 56,765,257 (GRCm39)	V9E	probably damaging	Het
Ptprt	A	G	2: 161,417,698 (GRCm39)	L926S	probably benign	Het
Rgl1	G	A	1: 152,400,454 (GRCm39)	T649I	possibly damaging	Het
Serpinf1	A	G	11: 75,307,251 (GRCm39)	S29P	probably damaging	Het
Skint6	A	T	4: 112,668,717 (GRCm39)	D1119E	probably benign	Het
Snw1	T	C	12: 87,505,674 (GRCm39)	K255E	probably damaging	Het
Sox6	T	C	7: 115,261,557 (GRCm39)	I220V	probably benign	Het
Stimate	T	A	14: 30,588,639 (GRCm39)	V122E	probably damaging	Het
Tas2r114	A	G	6: 131,666,287 (GRCm39)	I247T	probably damaging	Het
Tmem145	C	T	7: 25,008,257 (GRCm39)	T280M	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp219	T	C	14: 52,246,494 (GRCm39)	H211R	probably damaging	Het
Zfp42	T	C	8: 43,748,772 (GRCm39)	N243S	possibly damaging	Het
Zkscan4	T	A	13: 21,668,201 (GRCm39)	S246R	probably benign	Het

Other mutations in Msx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02877:Msx1	APN	5	37,981,344 (GRCm39)	missense	possibly damaging	0.69
R1195:Msx1	UTSW	5	37,978,625 (GRCm39)	missense	probably damaging	1.00
R1195:Msx1	UTSW	5	37,978,625 (GRCm39)	missense	probably damaging	1.00
R4063:Msx1	UTSW	5	37,981,365 (GRCm39)	missense	probably benign	0.01
R8056:Msx1	UTSW	5	37,981,544 (GRCm39)	missense	probably benign
R9287:Msx1	UTSW	5	37,978,795 (GRCm39)	missense	probably damaging	1.00
Z1177:Msx1	UTSW	5	37,981,359 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TTCCTGTGATCGGCCATGAG -3'
(R):5'- TAACAAGTTCTCAGGGGAGCGG -3'

Sequencing Primer
(F):5'- AGTGAAGCGGGCACTTTG -3'
(R):5'- AGTTGGCCTTCTGGGGAAG -3'

Posted On

2022-03-25