Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Alx4'

555096

Institutional Source

Beutler Lab

Gene Symbol

Alx4

Ensembl Gene

ENSMUSG00000040310

Gene Name

aristaless-like homeobox 4

Synonyms

Aristaless-like 4

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.656) question?

Stock #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93472779-93511686 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93505773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 292 (C292S)

Ref Sequence

ENSEMBL: ENSMUSP00000106885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042078] [ENSMUST00000111254] [ENSMUST00000184931]

AlphaFold

O35137

Predicted Effect

probably benign
Transcript: ENSMUST00000042078

SMART Domains

Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310

Domain	Start	End	E-Value	Type
low complexity region	91	108	N/A	INTRINSIC
HOX	202	264	1.11e-28	SMART
low complexity region	302	319	N/A	INTRINSIC
Pfam:OAR	375	393	1.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111254
AA Change: C292S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106885
Gene: ENSMUSG00000040310
AA Change: C292S

Domain	Start	End	E-Value	Type
low complexity region	91	108	N/A	INTRINSIC
HOX	202	264	1.11e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184931

SMART Domains

Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Exostosin	100	380	1.4e-57	PFAM
Pfam:Glyco_transf_64	456	559	9.5e-31	PFAM

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
PHENOTYPE: Depending on genetic background mutant mice may show preaxial polydactyly and other skeletal alterations, transitory alopecia, ventral body wall defects and male sterility. Homozygous mice of one allele die prenatally. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Spontaneous(1) Chemically induced(3)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Coil	C	T	11: 88,863,552 (GRCm39)		probably benign	Het
Col6a6	G	A	9: 105,609,462 (GRCm39)	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Fgg	A	T	3: 82,920,246 (GRCm39)	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,684,995 (GRCm39)	R30S	probably benign	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Scrn3	T	C	2: 73,148,768 (GRCm39)	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,161,347 (GRCm39)	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Taf1b	T	A	12: 24,597,118 (GRCm39)	Y352*	probably null	Het
Tas2r120	T	A	6: 132,634,297 (GRCm39)	N126K	probably benign	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	probably damaging	Het

Other mutations in Alx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01872:Alx4	APN	2	93,507,818 (GRCm39)	missense	probably benign	0.10
goofy	UTSW	2	93,505,714 (GRCm39)	missense	probably damaging	1.00
Luxoid	UTSW	2	93,505,657 (GRCm39)	missense	probably damaging	1.00
R0367:Alx4	UTSW	2	93,498,953 (GRCm39)	missense	probably damaging	1.00
R0436:Alx4	UTSW	2	93,498,702 (GRCm39)	nonsense	probably null
R0864:Alx4	UTSW	2	93,473,200 (GRCm39)	missense	probably damaging	1.00
R1913:Alx4	UTSW	2	93,505,732 (GRCm39)	missense	probably damaging	1.00
R3712:Alx4	UTSW	2	93,473,134 (GRCm39)	missense	possibly damaging	0.87
R4619:Alx4	UTSW	2	93,473,106 (GRCm39)	missense	probably damaging	1.00
R5018:Alx4	UTSW	2	93,507,764 (GRCm39)	missense	probably damaging	0.99
R5227:Alx4	UTSW	2	93,507,725 (GRCm39)	missense	probably damaging	1.00
R6505:Alx4	UTSW	2	93,498,904 (GRCm39)	missense	probably damaging	1.00
R7173:Alx4	UTSW	2	93,473,202 (GRCm39)	missense	possibly damaging	0.82
R7792:Alx4	UTSW	2	93,473,056 (GRCm39)	missense	probably damaging	1.00
R8209:Alx4	UTSW	2	93,505,696 (GRCm39)	missense	possibly damaging	0.68
R8424:Alx4	UTSW	2	93,507,814 (GRCm39)	missense	probably benign
R8697:Alx4	UTSW	2	93,505,657 (GRCm39)	missense	probably damaging	1.00
R8884:Alx4	UTSW	2	93,473,355 (GRCm39)	missense	possibly damaging	0.69
R9218:Alx4	UTSW	2	93,473,172 (GRCm39)	missense	possibly damaging	0.78
R9674:Alx4	UTSW	2	93,507,858 (GRCm39)	missense	probably damaging	1.00
Z1177:Alx4	UTSW	2	93,473,001 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAATGCCTAACCCCTGTG -3'
(R):5'- ACATACTTCCTTTGGGTGCC -3'

Sequencing Primer
(F):5'- TGTGACCACCACTGCTTTG -3'
(R):5'- ATACTTCCTTTGGGTGCCCTGAG -3'

Posted On

2019-06-07