Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Alx1'

706336

Institutional Source

Beutler Lab

Gene Symbol

Alx1

Ensembl Gene

ENSMUSG00000036602

Gene Name

ALX homeobox 1

Synonyms

Cart1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102843708-102865501 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 102858124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 192 (R192*)

Ref Sequence

ENSEMBL: ENSMUSP00000042512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040859] [ENSMUST00000167156] [ENSMUST00000217946] [ENSMUST00000218282] [ENSMUST00000218681] [ENSMUST00000219194]

AlphaFold

Q8C8B0

Predicted Effect

probably null
Transcript: ENSMUST00000040859
AA Change: R192*

SMART Domains

Protein: ENSMUSP00000042512
Gene: ENSMUSG00000036602
AA Change: R192*

Domain	Start	End	E-Value	Type
HOX	132	194	1.84e-25	SMART
Pfam:OAR	301	321	7.3e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000167156
AA Change: R192*

SMART Domains

Protein: ENSMUSP00000129230
Gene: ENSMUSG00000036602
AA Change: R192*

Domain	Start	End	E-Value	Type
HOX	132	194	1.84e-25	SMART
Pfam:OAR	302	320	2.3e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000217946
AA Change: R192*

Predicted Effect

probably null
Transcript: ENSMUST00000218282
AA Change: R192*

Predicted Effect

probably null
Transcript: ENSMUST00000218681
AA Change: R192*

Predicted Effect

probably null
Transcript: ENSMUST00000219194
AA Change: R192*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit perinatal lethality with acrania and meroanencephaly, but the neural tube closure defect can be ameliorated with prenatal folic acid treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Atosa	C	T	9: 74,883,415 (GRCm39)		probably benign	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdcp3	T	A	7: 130,828,401 (GRCm39)	N285K	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Npy2r	A	T	3: 82,447,728 (GRCm39)	I349N	possibly damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Shld2	A	G	14: 33,981,596 (GRCm39)	V514A	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Trpa1	A	G	1: 14,968,564 (GRCm39)	V428A	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	probably benign	Het

Other mutations in Alx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02331:Alx1	APN	10	102,858,160 (GRCm39)	missense	possibly damaging	0.93
IGL02508:Alx1	APN	10	102,858,054 (GRCm39)	missense	probably damaging	0.99
IGL03079:Alx1	APN	10	102,845,209 (GRCm39)	missense	probably damaging	1.00
R1345:Alx1	UTSW	10	102,864,353 (GRCm39)	missense	possibly damaging	0.86
R1370:Alx1	UTSW	10	102,864,353 (GRCm39)	missense	possibly damaging	0.86
R1846:Alx1	UTSW	10	102,861,165 (GRCm39)	missense	possibly damaging	0.88
R1912:Alx1	UTSW	10	102,861,222 (GRCm39)	missense	probably damaging	1.00
R4649:Alx1	UTSW	10	102,845,193 (GRCm39)	missense	probably damaging	0.99
R4767:Alx1	UTSW	10	102,861,047 (GRCm39)	nonsense	probably null
R5484:Alx1	UTSW	10	102,861,177 (GRCm39)	missense	probably damaging	0.99
R5979:Alx1	UTSW	10	102,858,120 (GRCm39)	missense	probably damaging	1.00
R6115:Alx1	UTSW	10	102,864,304 (GRCm39)	missense	possibly damaging	0.78
R6919:Alx1	UTSW	10	102,861,061 (GRCm39)	missense	probably damaging	1.00
R7781:Alx1	UTSW	10	102,845,053 (GRCm39)	missense	probably damaging	0.99
R8166:Alx1	UTSW	10	102,845,224 (GRCm39)	missense	probably damaging	1.00
R8238:Alx1	UTSW	10	102,858,076 (GRCm39)	missense	possibly damaging	0.80
R8275:Alx1	UTSW	10	102,864,250 (GRCm39)	missense	probably benign	0.04
R9219:Alx1	UTSW	10	102,858,121 (GRCm39)	missense	probably damaging	0.98
R9482:Alx1	UTSW	10	102,864,335 (GRCm39)	missense	probably benign
R9654:Alx1	UTSW	10	102,858,093 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGACTTTCACTCCTTACTATTGCAG -3'
(R):5'- AAAACACGTGGATTCAGTTTGG -3'

Sequencing Primer
(F):5'- GCAGTTGGTGTAATAAAACCCTAAGC -3'
(R):5'- CACGTGGATTCAGTTTGGATGTATAG -3'

Posted On

2022-04-18