Mutagenetix > Incidental Mutation

Incidental Mutation 'R6046:Mixl1'

483260

Institutional Source

Beutler Lab

Gene Symbol

Mixl1

Ensembl Gene

ENSMUSG00000026497

Gene Name

Mix paired-like homeobox

Synonyms

Mml

MMRRC Submission

044214-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6046 (G1)

Quality Score

183.009

Status

Validated

Chromosome

Chromosomal Location

180520608-180524599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 180524336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 81 (A81D)

Ref Sequence

ENSEMBL: ENSMUSP00000027778 (fasta)

Gene Model

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

AlphaFold

Q9WUI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027778
AA Change: A81D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027778
Gene: ENSMUSG00000026497
AA Change: A81D

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

0.0701

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,223,947 (GRCm39)	V252A	unknown	Het
Actn4	T	C	7: 28,604,044 (GRCm39)	I406V	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ank1	T	A	8: 23,606,114 (GRCm39)	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,476,790 (GRCm39)	V1000L	probably benign	Het
Bnip3	A	G	7: 138,511,033 (GRCm39)		probably benign	Het
Btnl6	T	A	17: 34,727,371 (GRCm39)	R386S	probably damaging	Het
Calcrl	A	G	2: 84,205,658 (GRCm39)	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,863,571 (GRCm39)	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,714,350 (GRCm39)	T1960A	probably benign	Het
Cfb	T	A	17: 35,081,078 (GRCm39)		probably null	Het
Chd8	A	G	14: 52,458,528 (GRCm39)	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102 (GRCm39)		probably null	Het
Crhr2	T	A	6: 55,068,277 (GRCm39)	T428S	probably damaging	Het
Crybg2	A	T	4: 133,819,388 (GRCm39)	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,186,955 (GRCm39)	V46E	probably benign	Het
Cxcr1	T	C	1: 74,231,440 (GRCm39)	E194G	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Dpyd	T	A	3: 119,225,224 (GRCm39)	M999K	probably benign	Het
Gbp3	A	C	3: 142,273,560 (GRCm39)	D369A	possibly damaging	Het
Glmp	A	G	3: 88,232,495 (GRCm39)	E36G	probably damaging	Het
Gm10113	T	C	13: 46,330,919 (GRCm39)		noncoding transcript	Het
Gm6486	T	A	5: 3,120,846 (GRCm39)		noncoding transcript	Het
Gm973	T	G	1: 59,671,509 (GRCm39)	L891R	unknown	Het
Heatr3	C	T	8: 88,866,582 (GRCm39)	T8M	probably damaging	Het
Herc1	A	G	9: 66,352,831 (GRCm39)	M2106V	probably damaging	Het
Hfm1	A	T	5: 107,046,509 (GRCm39)		probably null	Het
Hspa14	A	G	2: 3,490,801 (GRCm39)	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,665,761 (GRCm39)	T535K	possibly damaging	Het
Ift140	A	G	17: 25,274,563 (GRCm39)	D745G	probably benign	Het
Ift27	A	T	15: 78,057,981 (GRCm39)	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,728,616 (GRCm39)	W182*	probably null	Het
Itga3	A	G	11: 94,953,541 (GRCm39)	I236T	probably benign	Het
Kctd15	T	A	7: 34,349,547 (GRCm39)	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,232,729 (GRCm39)	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,027,340 (GRCm39)	L234H	probably damaging	Het
Lrp2	T	A	2: 69,337,098 (GRCm39)	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,545,488 (GRCm39)	D429N	probably benign	Het
Mettl3	A	T	14: 52,536,243 (GRCm39)	N200K	possibly damaging	Het
Mroh2b	T	C	15: 4,980,763 (GRCm39)	I1444T	probably benign	Het
Muc15	T	A	2: 110,561,786 (GRCm39)	L74*	probably null	Het
Olfm2	T	A	9: 20,579,824 (GRCm39)	Y317F	probably damaging	Het
Or52a33	C	T	7: 103,288,886 (GRCm39)	V154M	probably benign	Het
Or5b114-ps1	G	A	19: 13,352,698 (GRCm39)	S124N	probably benign	Het
Or5p54	T	A	7: 107,554,001 (GRCm39)	I51N	probably benign	Het
Pclo	A	T	5: 14,763,302 (GRCm39)	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,599,137 (GRCm39)	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,842,518 (GRCm39)	Q449R	probably damaging	Het
Psg28	T	C	7: 18,160,305 (GRCm39)	E297G	probably damaging	Het
Qrich2	A	T	11: 116,337,832 (GRCm39)		probably benign	Het
Rgs9	A	G	11: 109,130,386 (GRCm39)	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,844,543 (GRCm39)	D345G	probably damaging	Het
Rtn4	T	A	11: 29,658,023 (GRCm39)	F726I	probably damaging	Het
Sart3	A	T	5: 113,893,507 (GRCm39)	I330N	probably damaging	Het
Scn5a	T	C	9: 119,391,440 (GRCm39)	D84G	probably damaging	Het
Sema4a	T	C	3: 88,348,008 (GRCm39)	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,242,961 (GRCm39)	Y73S	probably benign	Het
Slc24a2	A	G	4: 86,914,882 (GRCm39)	M585T	probably damaging	Het
Slc26a7	A	G	4: 14,505,471 (GRCm39)	V656A	probably benign	Het
Smok2a	T	G	17: 13,445,021 (GRCm39)	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,235,030 (GRCm39)	I344V	probably benign	Het
Tll1	A	T	8: 64,506,925 (GRCm39)	Y605*	probably null	Het
Trim75	G	A	8: 65,435,535 (GRCm39)	P305L	probably damaging	Het
Unc13c	T	C	9: 73,838,166 (GRCm39)	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,799,876 (GRCm39)	I822N	probably damaging	Het
Wasf3	T	G	5: 146,407,166 (GRCm39)	D495E	unknown	Het
Wdhd1	T	A	14: 47,510,667 (GRCm39)	K119*	probably null	Het
Wnt2b	T	A	3: 104,858,339 (GRCm39)	D310V	probably damaging	Het
Zfat	G	T	15: 68,052,626 (GRCm39)	D389E	probably damaging	Het
Zfp282	G	A	6: 47,857,102 (GRCm39)	V112M	probably damaging	Het
Zfp617	A	T	8: 72,687,257 (GRCm39)	K529I	probably damaging	Het
Zfp866	A	T	8: 70,218,373 (GRCm39)	C416S	probably damaging	Het
Zfp991	G	A	4: 147,264,222 (GRCm39)	G533D	probably benign	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
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
R9095:Mixl1	UTSW	1	180,524,402 (GRCm39)	missense	probably benign
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'- ACAAGCCTGTGACTTCCCAG -3'
(R):5'- CAAAGCGGTTCGAGGTATGTGG -3'

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

Posted On

2017-07-14