Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Alx3'

366318

Institutional Source

Beutler Lab

Gene Symbol

Alx3

Ensembl Gene

ENSMUSG00000014603

Gene Name

aristaless-like homeobox 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107502347-107513092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107508007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 172 (F172S)

Ref Sequence

ENSEMBL: ENSMUSP00000014747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014747]

AlphaFold

O70137

Predicted Effect

probably damaging
Transcript: ENSMUST00000014747
AA Change: F172S

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

SMART Domains

Protein: ENSMUSP00000014747
Gene: ENSMUSG00000014603
AA Change: F172S

Domain	Start	End	E-Value	Type
low complexity region	12	28	N/A	INTRINSIC
low complexity region	32	48	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC
HOX	153	215	1.06e-25	SMART
low complexity region	248	258	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene belongs to Group 1 of aristaless-like genes, which are characterized by the presence of an aristaless domain and a conserved paired-like homeodomain. The encoded protein acts as a transcriptional regulator. The protein plays a role in the development of craniofacial and appendicular skeleton and may have a role in pancreatic function. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutation of this gene results in defects in glucose metabolism. Mice homozygous for a reporter allele exhibit partial preweaning lethality, open neural tube and craniofacial defects in some mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,382,174 (GRCm39)	S1264A	probably benign	Het
Adamts13	T	G	2: 26,898,723 (GRCm39)	Y1361*	probably null	Het
Ahrr	A	T	13: 74,362,331 (GRCm39)	D389E	probably damaging	Het
Antxrl	A	G	14: 33,795,027 (GRCm39)	H485R	possibly damaging	Het
Aox4	A	G	1: 58,298,307 (GRCm39)	D1091G	probably null	Het
Btbd1	T	A	7: 81,455,558 (GRCm39)	Q271L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdc14a	C	T	3: 116,088,399 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,912 (GRCm39)	M1641V	probably benign	Het
Clec2e	G	A	6: 129,077,790 (GRCm39)	T16I	probably benign	Het
Clp1	T	C	2: 84,556,219 (GRCm39)	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,337,444 (GRCm39)	F517I	probably damaging	Het
Dzip3	T	C	16: 48,758,837 (GRCm39)	N646S	probably damaging	Het
Ephx1	T	A	1: 180,823,543 (GRCm39)	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,403,051 (GRCm39)	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,368,571 (GRCm39)	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,868,411 (GRCm39)		probably null	Het
Ift81	G	T	5: 122,732,656 (GRCm39)	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Il6	T	G	5: 30,223,076 (GRCm39)	L114*	probably null	Het
Ism2	A	T	12: 87,346,355 (GRCm39)	M42K	probably benign	Het
Lhx5	A	G	5: 120,574,503 (GRCm39)	E269G	probably benign	Het
Marveld1	T	G	19: 42,136,434 (GRCm39)	M116R	possibly damaging	Het
Micall2	A	G	5: 139,692,641 (GRCm39)	S911P	probably damaging	Het
Mier1	G	A	4: 102,997,417 (GRCm39)	R195H	probably benign	Het
Muc2	T	A	7: 141,286,260 (GRCm39)		probably null	Het
Mybbp1a	A	G	11: 72,336,466 (GRCm39)	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,162,708 (GRCm39)	L179R	probably damaging	Het
Nos1	C	T	5: 118,081,310 (GRCm39)	Q1171*	probably null	Het
Nrg1	T	A	8: 32,408,000 (GRCm39)	I78F	probably damaging	Het
Or5d36	T	G	2: 87,901,073 (GRCm39)	T218P	probably benign	Het
Or6y1	T	G	1: 174,276,524 (GRCm39)	F112V	possibly damaging	Het
Plek2	C	T	12: 78,953,664 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,477,325 (GRCm39)	H339R	probably damaging	Het
Pold1	C	T	7: 44,184,495 (GRCm39)	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,927,852 (GRCm39)	I868V	probably benign	Het
Prss54	C	A	8: 96,286,003 (GRCm39)	V357L	probably benign	Het
Rbbp8	T	A	18: 11,855,727 (GRCm39)	S625T	probably damaging	Het
Rgs1	A	T	1: 144,123,667 (GRCm39)	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,545,262 (GRCm39)	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,325,429 (GRCm39)	L1011F	probably damaging	Het
Slc19a3	G	A	1: 82,997,062 (GRCm39)	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991 (GRCm38)	L537Q	probably damaging	Het
Trim45	C	A	3: 100,839,050 (GRCm39)		probably benign	Het
Umodl1	G	T	17: 31,202,976 (GRCm39)	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,597 (GRCm39)	R87K	probably damaging	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Zeb2	T	G	2: 44,886,447 (GRCm39)	E825A	probably damaging	Het
Zfp930	A	T	8: 69,679,344 (GRCm39)	I50F	probably benign	Het

Other mutations in Alx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Alx3	APN	3	107,512,139 (GRCm39)	missense	probably damaging	1.00
IGL02537:Alx3	APN	3	107,512,175 (GRCm39)	missense	possibly damaging	0.76
R0003:Alx3	UTSW	3	107,512,292 (GRCm39)	missense	probably damaging	1.00
R1142:Alx3	UTSW	3	107,507,980 (GRCm39)	missense	possibly damaging	0.95
R3791:Alx3	UTSW	3	107,508,022 (GRCm39)	missense	probably damaging	1.00
R4322:Alx3	UTSW	3	107,502,691 (GRCm39)	missense	probably benign
R4868:Alx3	UTSW	3	107,507,943 (GRCm39)	missense	possibly damaging	0.58
R5072:Alx3	UTSW	3	107,512,109 (GRCm39)	missense	possibly damaging	0.85
R5200:Alx3	UTSW	3	107,507,980 (GRCm39)	missense	possibly damaging	0.95
R5640:Alx3	UTSW	3	107,507,977 (GRCm39)	missense	probably damaging	1.00
R5801:Alx3	UTSW	3	107,512,257 (GRCm39)	nonsense	probably null
R7538:Alx3	UTSW	3	107,511,680 (GRCm39)	missense	probably damaging	1.00
R8002:Alx3	UTSW	3	107,508,055 (GRCm39)	nonsense	probably null
R8112:Alx3	UTSW	3	107,512,300 (GRCm39)	nonsense	probably null
R8733:Alx3	UTSW	3	107,512,135 (GRCm39)	missense	probably damaging	1.00
R8885:Alx3	UTSW	3	107,508,010 (GRCm39)	missense	probably damaging	1.00
R8911:Alx3	UTSW	3	107,511,603 (GRCm39)	missense	probably damaging	1.00
X0066:Alx3	UTSW	3	107,512,395 (GRCm39)	makesense	probably null
Z1177:Alx3	UTSW	3	107,512,150 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGACCCTCTAATGTGCAAG -3'
(R):5'- CCTGAAGGCTGAGCTCCAAAAG -3'

Sequencing Primer
(F):5'- TAATGTGCAAGCTTCCCCGG -3'
(R):5'- TCCAAAAGGCCAGGTGC -3'

Posted On

2015-12-21