Mutagenetix > Incidental Mutation

Incidental Mutation 'R9654:Alx1'

727274

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 #

R9654 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102843708-102865501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102858093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 202 (H202L)

Ref Sequence

ENSEMBL: ENSMUSP00000042512 (fasta)

Gene Model

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

AlphaFold

Q8C8B0

Predicted Effect

probably benign
Transcript: ENSMUST00000040859
AA Change: H202L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000042512
Gene: ENSMUSG00000036602
AA Change: H202L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167156
AA Change: H202L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129230
Gene: ENSMUSG00000036602
AA Change: H202L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217946
AA Change: H202L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000218282
AA Change: H202L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000218681
AA Change: H202L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000219194
AA Change: H202L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,948,916 (GRCm39)	S938P	possibly damaging	Het
Abca17	G	T	17: 24,536,099 (GRCm39)	H523N	probably benign	Het
Amotl1	T	A	9: 14,462,981 (GRCm39)	H744L	probably benign	Het
Ankrd50	A	T	3: 38,511,018 (GRCm39)	S450T	probably benign	Het
Aoc1l1	T	C	6: 48,952,837 (GRCm39)	L254P	probably damaging	Het
Arhgef25	C	T	10: 127,021,955 (GRCm39)	S200N	probably damaging	Het
Arl4c	G	T	1: 88,629,361 (GRCm39)	S9*	probably null	Het
Bod1l	A	G	5: 41,975,707 (GRCm39)	M1869T	probably benign	Het
Btnl6	G	A	17: 34,733,140 (GRCm39)	P241L	probably damaging	Het
Cacng8	C	T	7: 3,443,002 (GRCm39)	R88W	probably damaging	Het
Ccdc154	C	T	17: 25,386,684 (GRCm39)	T262I	possibly damaging	Het
Clmn	C	A	12: 104,748,193 (GRCm39)	E451D	probably damaging	Het
Dnah14	A	T	1: 181,593,904 (GRCm39)	I3416L	probably benign	Het
Dnah17	A	G	11: 117,927,156 (GRCm39)		probably null	Het
Dnah3	T	A	7: 119,641,396 (GRCm39)	K1175*	probably null	Het
Dock8	C	T	19: 25,124,710 (GRCm39)	R1009W	probably damaging	Het
Fhip1a	G	T	3: 85,579,532 (GRCm39)	T891K	probably damaging	Het
Fkbp15	A	G	4: 62,230,553 (GRCm39)	V720A	probably benign	Het
Fryl	G	T	5: 73,275,801 (GRCm39)	P121Q	probably benign	Het
H2-Q6	C	T	17: 35,644,185 (GRCm39)	R56C	probably damaging	Het
Hbs1l	T	C	10: 21,183,604 (GRCm39)	V115A	possibly damaging	Het
Heatr5a	G	A	12: 52,005,778 (GRCm39)	P66S	probably damaging	Het
Hsd17b4	A	G	18: 50,272,533 (GRCm39)	D44G	probably benign	Het
Idh3a	T	C	9: 54,497,182 (GRCm39)	V41A	probably benign	Het
Itih1	T	A	14: 30,664,870 (GRCm39)	K37M	probably damaging	Het
Lama1	A	G	17: 68,101,266 (GRCm39)	T1920A		Het
Ltn1	G	C	16: 87,207,227 (GRCm39)	D904E	probably benign	Het
Map6	T	C	7: 98,986,166 (GRCm39)	I893T	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mr1	T	C	1: 155,013,430 (GRCm39)	H49R	possibly damaging	Het
Myh2	T	C	11: 67,088,171 (GRCm39)	V1929A	probably benign	Het
Ncoa4	C	A	14: 31,896,465 (GRCm39)	P230Q	probably benign	Het
Npy4r	T	A	14: 33,869,081 (GRCm39)	Q69L	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Nus1	T	G	10: 52,294,130 (GRCm39)	L98R	possibly damaging	Het
Or10ag55-ps1	C	T	2: 87,115,071 (GRCm39)	L146F	probably benign	Het
Or14c42-ps1	T	A	7: 86,210,950 (GRCm39)	N3K	unknown	Het
Or2w4	T	C	13: 21,795,915 (GRCm39)	T75A	possibly damaging	Het
Or4c11b	T	C	2: 88,625,263 (GRCm39)	L179S	probably damaging	Het
Or5k17	T	A	16: 58,746,752 (GRCm39)	I61F	probably benign	Het
Pcdha11	A	C	18: 37,145,333 (GRCm39)	T475P	probably damaging	Het
Pex5l	C	A	3: 33,010,827 (GRCm39)	A384S	probably benign	Het
Pgk2	T	A	17: 40,518,651 (GRCm39)	D259V	probably damaging	Het
Rhbdf1	T	C	11: 32,166,028 (GRCm39)	M52V	probably benign	Het
Rsph6a	T	A	7: 18,799,332 (GRCm39)	L321Q	probably damaging	Het
Sugp1	T	A	8: 70,522,656 (GRCm39)	M452K	probably damaging	Het
Sult2a6	T	G	7: 13,956,445 (GRCm39)	D272A	probably benign	Het
Tlr6	A	T	5: 65,112,697 (GRCm39)	L70Q	probably damaging	Het
Tmem178b	A	T	6: 40,222,534 (GRCm39)	Y83F	probably benign	Het
Tmprss4	C	T	9: 45,090,700 (GRCm39)		probably null	Het
Trpv4	A	G	5: 114,764,887 (GRCm39)	L709P	probably benign	Het
Utp15	G	A	13: 98,385,668 (GRCm39)	T519M	probably benign	Het
Vmn2r59	T	C	7: 41,693,217 (GRCm39)	N461S	probably benign	Het
Zap70	T	C	1: 36,818,327 (GRCm39)	V338A	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
R9323:Alx1	UTSW	10	102,858,124 (GRCm39)	nonsense	probably null
R9482:Alx1	UTSW	10	102,864,335 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGACTAGACTTTCACTCCTTAC -3'
(R):5'- AACACGTGGATTCAGTTTGGATG -3'

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

Posted On

2022-10-06