Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02537:Alx3'

297542

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02537

Quality Score

Status

Chromosome

Chromosomal Location

107502347-107513092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107512175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 271 (M271K)

Ref Sequence

ENSEMBL: ENSMUSP00000014747 (fasta)

Gene Model

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

AlphaFold

O70137

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014747
AA Change: M271K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000014747
Gene: ENSMUSG00000014603
AA Change: M271K

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Ank2	T	C	3: 126,749,565 (GRCm39)	E488G	probably damaging	Het
Arsk	T	A	13: 76,223,025 (GRCm39)	R191*	probably null	Het
B230217C12Rik	T	C	11: 97,733,011 (GRCm39)	S111P	possibly damaging	Het
Bckdhb	A	G	9: 83,871,194 (GRCm39)	I158V	probably benign	Het
Bub1	G	A	2: 127,643,267 (GRCm39)	Q1026*	probably null	Het
C8a	A	G	4: 104,703,148 (GRCm39)	M303T	probably damaging	Het
Cftr	A	G	6: 18,274,596 (GRCm39)	T905A	probably benign	Het
Ciao3	C	T	17: 25,997,916 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,208,310 (GRCm39)	K132*	probably null	Het
Depdc5	T	A	5: 33,125,131 (GRCm39)	L531Q	probably damaging	Het
Dzip1	G	A	14: 119,146,988 (GRCm39)		probably benign	Het
F5	C	A	1: 164,020,686 (GRCm39)	L1054I	probably benign	Het
Gm4353	A	T	7: 115,682,987 (GRCm39)	I198N	probably damaging	Het
Il1a	T	A	2: 129,150,996 (GRCm39)	E9V	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kndc1	T	C	7: 139,490,326 (GRCm39)	V276A	probably benign	Het
Or2aj5	A	T	16: 19,424,549 (GRCm39)	Y290N	probably damaging	Het
Or4a74	A	C	2: 89,439,739 (GRCm39)	S236A	possibly damaging	Het
Or6n2	A	T	1: 173,897,020 (GRCm39)	D52V	possibly damaging	Het
Palld	T	C	8: 62,137,968 (GRCm39)	S596G	probably benign	Het
Pdc	A	T	1: 150,208,760 (GRCm39)	D81V	possibly damaging	Het
Plcd4	A	G	1: 74,595,209 (GRCm39)	K361R	possibly damaging	Het
Plekhm1	T	A	11: 103,288,018 (GRCm39)	D43V	probably damaging	Het
Prpf31	G	T	7: 3,641,750 (GRCm39)	G356C	probably damaging	Het
Rbpj	T	A	5: 53,799,485 (GRCm39)	I100K	probably damaging	Het
Rufy3	A	G	5: 88,788,521 (GRCm39)		probably benign	Het
Slc40a1	C	T	1: 45,950,553 (GRCm39)	V300I	probably benign	Het
Slc6a12	A	T	6: 121,337,473 (GRCm39)	I386F	probably benign	Het
Strip1	C	T	3: 107,524,210 (GRCm39)	R569H	possibly damaging	Het
Tep1	A	T	14: 51,073,570 (GRCm39)	D1996E	probably damaging	Het
Tmem68	A	G	4: 3,569,649 (GRCm39)	S14P	possibly damaging	Het
Trav12-1	C	A	14: 53,775,980 (GRCm39)	C44*	probably null	Het
Uba1	G	A	X: 20,544,902 (GRCm39)	R693H	possibly damaging	Het
Ugt2b38	T	C	5: 87,569,590 (GRCm39)	T246A	possibly damaging	Het
Usp24	A	G	4: 106,249,564 (GRCm39)	Y1427C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,496 (GRCm39)	Y558F	probably damaging	Het
Wdr54	A	G	6: 83,130,372 (GRCm39)	W221R	possibly damaging	Het
Xpo4	T	C	14: 57,831,290 (GRCm39)	T773A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp518a	T	A	19: 40,903,874 (GRCm39)	S1268T	probably benign	Het
Znfx1	T	C	2: 166,898,087 (GRCm39)	D279G	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
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
R4769:Alx3	UTSW	3	107,508,007 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16