Mutagenetix > Incidental Mutation

Incidental Mutation 'R9095:Mixl1'

691256

Institutional Source

Beutler Lab

Gene Symbol

Mixl1

Ensembl Gene

ENSMUSG00000026497

Gene Name

Mix paired-like homeobox

Synonyms

Mml

MMRRC Submission

068910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180520608-180524599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180524402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 59 (D59G)

Ref Sequence

ENSEMBL: ENSMUSP00000027778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027778]

AlphaFold

Q9WUI0

Predicted Effect

probably benign
Transcript: ENSMUST00000027778
AA Change: D59G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027778
Gene: ENSMUSG00000026497
AA Change: D59G

Domain	Start	End	E-Value	Type
low complexity region	72	85	N/A	INTRINSIC
HOX	86	148	1.58e-24	SMART

Meta Mutation Damage Score

0.0676

Coding Region Coverage

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

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null embryos are mostly arrested in development by E9 exhibiting abnormalities in primitive streak and node formation, disorganized head folds, foreshortened body axis, absence of heart tube and gut, deficient paraxial mesoderm, abnormal notochord morphology, and an enlarged allantois. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,500,370 (GRCm39)	V1274M	probably damaging	Het
Abca4	A	G	3: 121,967,556 (GRCm39)	H2202R	possibly damaging	Het
Ablim3	A	G	18: 61,953,463 (GRCm39)	L350P	probably benign	Het
Adamts17	C	T	7: 66,654,117 (GRCm39)	T449I	probably damaging	Het
Ankrd39	T	A	1: 36,586,241 (GRCm39)	D9V	probably benign	Het
Arhgef7	T	C	8: 11,835,819 (GRCm39)	V192A	probably damaging	Het
Art4	C	T	6: 136,834,269 (GRCm39)		probably benign	Het
Atg4a-ps	A	T	3: 103,553,254 (GRCm39)	V29E	possibly damaging	Het
Ccdc180	A	T	4: 45,949,466 (GRCm39)	K1574*	probably null	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Clip2	C	T	5: 134,532,254 (GRCm39)	R517H	possibly damaging	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Cpne1	T	A	2: 155,918,210 (GRCm39)		probably null	Het
Csnk2a1-ps3	A	T	1: 156,352,213 (GRCm39)	Y138F	probably benign	Het
Cyp2f2	T	A	7: 26,830,667 (GRCm39)	M346K	possibly damaging	Het
D130040H23Rik	AAGAATATATTCTACAGAATATA	AAGAATATA	8: 69,755,748 (GRCm39)		probably null	Het
Ddi2	T	A	4: 141,419,590 (GRCm39)	I387F	probably benign	Het
Dsg1b	A	G	18: 20,523,282 (GRCm39)	N103S	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,156,666 (GRCm39)	I1464V	probably benign	Het
Epha2	A	G	4: 141,044,012 (GRCm39)	Y314C	possibly damaging	Het
Etl4	A	G	2: 20,782,964 (GRCm39)	E675G	probably damaging	Het
Fam114a1	A	C	5: 65,188,733 (GRCm39)	I488L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fn1	A	C	1: 71,647,149 (GRCm39)	I1547S	probably null	Het
Garre1	A	T	7: 33,956,770 (GRCm39)		probably null	Het
Get1	T	A	16: 95,954,244 (GRCm39)		probably benign	Het
Gm14305	T	A	2: 176,413,045 (GRCm39)	Y312*	probably null	Het
Golm2	T	A	2: 121,756,096 (GRCm39)	L375Q	probably damaging	Het
Gpihbp1	A	G	15: 75,469,641 (GRCm39)	T119A	possibly damaging	Het
Harbi1	T	G	2: 91,542,980 (GRCm39)	V147G	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Ighv13-2	C	A	12: 114,321,494 (GRCm39)	A82S	probably benign	Het
Itpr1	T	A	6: 108,364,352 (GRCm39)	D827E	probably benign	Het
Krtap4-2	C	T	11: 99,525,801 (GRCm39)	G17D	unknown	Het
Ly6a	A	T	15: 74,867,333 (GRCm39)		probably benign	Het
Mad1l1	C	T	5: 140,288,741 (GRCm39)	E203K	probably damaging	Het
Mapk14	C	A	17: 28,934,413 (GRCm39)	D101E	probably benign	Het
Meis3	G	T	7: 15,917,764 (GRCm39)	G306W	probably damaging	Het
Nav2	G	A	7: 49,254,293 (GRCm39)	V2364M	probably damaging	Het
Nell1	T	C	7: 50,506,150 (GRCm39)	S786P	possibly damaging	Het
Or13a25	T	G	7: 140,247,813 (GRCm39)	N197K	probably damaging	Het
Or51e2	C	A	7: 102,391,473 (GRCm39)	V246L	possibly damaging	Het
Or51g1	A	G	7: 102,633,687 (GRCm39)	L228P	probably damaging	Het
Or5b107	T	G	19: 13,143,310 (GRCm39)	S311A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,052 (GRCm39)	D374V	probably damaging	Het
Phactr2	A	G	10: 13,129,386 (GRCm39)	I294T	probably benign	Het
Plekha4	C	T	7: 45,190,492 (GRCm39)	A400V	probably damaging	Het
Pramel21	T	C	4: 143,341,760 (GRCm39)	F63S	probably damaging	Het
Pramel4	C	A	4: 143,794,928 (GRCm39)	D441E	probably benign	Het
Prr12	G	A	7: 44,695,267 (GRCm39)	P1400S	unknown	Het
Prss3b	T	A	6: 41,010,038 (GRCm39)	N99Y	possibly damaging	Het
Rbm6	G	A	9: 107,669,089 (GRCm39)	Q608*	probably null	Het
Scamp1	T	A	13: 94,369,598 (GRCm39)	I76F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sirt1	A	T	10: 63,158,077 (GRCm39)	S446T	probably damaging	Het
Slc25a54	A	G	3: 109,019,404 (GRCm39)	K336R	probably benign	Het
Spag17	G	T	3: 99,912,092 (GRCm39)	V321F	possibly damaging	Het
Sstr1	A	G	12: 58,259,620 (GRCm39)	Y81C	probably damaging	Het
St8sia4	T	C	1: 95,519,525 (GRCm39)	K321R	probably damaging	Het
Stac3	T	C	10: 127,343,584 (GRCm39)	F242S	probably damaging	Het
Tanc2	T	G	11: 105,758,104 (GRCm39)	S622A	probably benign	Het
Tcf4	G	A	18: 69,598,464 (GRCm39)	D106N	possibly damaging	Het
Tfrc	T	A	16: 32,433,571 (GRCm39)	I75N	possibly damaging	Het
Tigd2	G	A	6: 59,187,509 (GRCm39)	W125*	probably null	Het
Tjp1	T	C	7: 64,952,745 (GRCm39)	T1530A	possibly damaging	Het
Tmem132a	T	A	19: 10,844,412 (GRCm39)	H62L	probably benign	Het
Tmem89	T	C	9: 108,743,729 (GRCm39)	S10P	unknown	Het
Trrap	C	T	5: 144,733,961 (GRCm39)	P938L	probably damaging	Het
Unc80	C	A	1: 66,545,912 (GRCm39)	P488T	probably damaging	Het
Uri1	C	A	7: 37,662,873 (GRCm39)	G374C	probably damaging	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vcan	G	T	13: 89,852,644 (GRCm39)	T772K	probably benign	Het
Zbtb37	A	T	1: 160,847,941 (GRCm39)	Y355*	probably null	Het
Zfp3	A	G	11: 70,662,405 (GRCm39)	I121M	probably benign	Het
Zfp629	A	T	7: 127,209,547 (GRCm39)	L754Q	probably damaging	Het

Other mutations in Mixl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02548:Mixl1	APN	1	180,522,269 (GRCm39)	missense	probably benign	0.03
IGL03371:Mixl1	APN	1	180,522,191 (GRCm39)	missense	probably benign	0.00
R0453:Mixl1	UTSW	1	180,524,211 (GRCm39)	missense	probably damaging	1.00
R0838:Mixl1	UTSW	1	180,524,365 (GRCm39)	missense	probably benign	0.45
R1832:Mixl1	UTSW	1	180,522,296 (GRCm39)	missense	probably benign	0.11
R4870:Mixl1	UTSW	1	180,522,237 (GRCm39)	missense	probably benign	0.06
R6046:Mixl1	UTSW	1	180,524,336 (GRCm39)	missense	possibly damaging	0.94
R6918:Mixl1	UTSW	1	180,522,243 (GRCm39)	missense	probably benign	0.02
R6980:Mixl1	UTSW	1	180,524,453 (GRCm39)	missense	possibly damaging	0.51
R7047:Mixl1	UTSW	1	180,524,183 (GRCm39)	critical splice donor site	probably null
R7296:Mixl1	UTSW	1	180,524,523 (GRCm39)	missense	probably benign
R8108:Mixl1	UTSW	1	180,524,267 (GRCm39)	missense	probably damaging	1.00
R8237:Mixl1	UTSW	1	180,524,322 (GRCm39)	nonsense	probably null
R9074:Mixl1	UTSW	1	180,522,245 (GRCm39)	missense	probably damaging	1.00
R9254:Mixl1	UTSW	1	180,522,258 (GRCm39)	missense	probably benign	0.00
R9379:Mixl1	UTSW	1	180,522,258 (GRCm39)	missense	probably benign	0.00
R9749:Mixl1	UTSW	1	180,522,311 (GRCm39)	missense	probably benign	0.00
X0065:Mixl1	UTSW	1	180,522,266 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAGTGGATGTCTGGGTAC -3'
(R):5'- CAAAGCGGTTCGAGGTATGTGG -3'

Sequencing Primer
(F):5'- GGTACATGGTCTGTCGGAAG -3'
(R):5'- TATAACTGCAGGCGCGC -3'

Posted On

2021-12-30