Mutagenetix > Incidental Mutation

Incidental Mutation 'R5423:Shox2'

484585

Institutional Source

Beutler Lab

Gene Symbol

Shox2

Ensembl Gene

ENSMUSG00000027833

Gene Name

SHOX homeobox 2

Synonyms

Og12x, Prx3, 6330543G17Rik

MMRRC Submission

042989-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5423 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

66879060-66889104 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 66881087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029422] [ENSMUST00000162060] [ENSMUST00000162439] [ENSMUST00000195261]

AlphaFold

P70390

Predicted Effect

unknown
Transcript: ENSMUST00000029422
AA Change: S298P

SMART Domains

Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: S298P

Domain	Start	End	E-Value	Type
low complexity region	57	90	N/A	INTRINSIC
HOX	140	202	1.8e-28	SMART
low complexity region	258	273	N/A	INTRINSIC
Pfam:OAR	310	327	3.3e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000162060
AA Change: S157P

SMART Domains

Protein: ENSMUSP00000125031
Gene: ENSMUSG00000027833
AA Change: S157P

Domain	Start	End	E-Value	Type
HOX	11	73	1.8e-28	SMART
low complexity region	117	132	N/A	INTRINSIC
Pfam:OAR	167	187	9.7e-11	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000162098
AA Change: S206P

SMART Domains

Protein: ENSMUSP00000123838
Gene: ENSMUSG00000027833
AA Change: S206P

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
HOX	61	123	1.8e-28	SMART
low complexity region	167	182	N/A	INTRINSIC
Pfam:OAR	219	236	1e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000162439
AA Change: S157P

SMART Domains

Protein: ENSMUSP00000124924
Gene: ENSMUSG00000027833
AA Change: S157P

Domain	Start	End	E-Value	Type
HOX	11	73	1.8e-28	SMART
low complexity region	117	132	N/A	INTRINSIC
Pfam:OAR	167	187	9.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195261

SMART Domains

Protein: ENSMUSP00000141625
Gene: ENSMUSG00000027833

Domain	Start	End	E-Value	Type
HOX	11	73	9e-31	SMART

Meta Mutation Damage Score

0.2382

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mice display incomplete penetrance of embryonic lethality during organogenesis and incomplete clefting of the anterior part of the palate. [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
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Ak4	T	G	4: 101,317,760 (GRCm39)	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Ckap2	A	C	8: 22,667,212 (GRCm39)	S216R	probably benign	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,202,404 (GRCm39)	D468G	probably damaging	Het
Fbxo44	T	A	4: 148,238,686 (GRCm39)	I213F	probably benign	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Lrrtm3	T	C	10: 63,923,931 (GRCm39)	D412G	possibly damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,360,597 (GRCm39)	V248M	probably damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Uggt2	G	A	14: 119,256,898 (GRCm39)	T1112I	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	Het

Other mutations in Shox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Shox2	APN	3	66,888,774 (GRCm39)	missense	possibly damaging	0.49
IGL00813:Shox2	APN	3	66,882,777 (GRCm39)	missense	probably damaging	1.00
IGL01534:Shox2	APN	3	66,885,696 (GRCm39)	missense	probably benign	0.01
IGL01583:Shox2	APN	3	66,881,104 (GRCm39)	unclassified	probably benign
R0306:Shox2	UTSW	3	66,881,167 (GRCm39)	missense	probably damaging	0.98
R0374:Shox2	UTSW	3	66,881,184 (GRCm39)	missense	probably damaging	0.98
R0625:Shox2	UTSW	3	66,888,877 (GRCm39)	critical splice donor site	probably null
R0774:Shox2	UTSW	3	66,881,144 (GRCm39)	missense	probably damaging	1.00
R1102:Shox2	UTSW	3	66,885,628 (GRCm39)	missense	probably damaging	1.00
R1192:Shox2	UTSW	3	66,881,243 (GRCm39)	nonsense	probably null
R2354:Shox2	UTSW	3	66,888,822 (GRCm39)	missense	possibly damaging	0.94
R2518:Shox2	UTSW	3	66,885,692 (GRCm39)	missense	possibly damaging	0.83
R4163:Shox2	UTSW	3	66,881,104 (GRCm39)	unclassified	probably benign
R4976:Shox2	UTSW	3	66,881,008 (GRCm39)	unclassified	probably benign
R5493:Shox2	UTSW	3	66,888,796 (GRCm39)	missense	probably damaging	1.00
R6528:Shox2	UTSW	3	66,888,618 (GRCm39)	missense	probably benign	0.00
RF020:Shox2	UTSW	3	66,881,146 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTTTAGTCCCAAGGGCGG -3'
(R):5'- TAGTCATTGCAACGTGACGC -3'

Sequencing Primer
(F):5'- CTGGGCGACGGTCAGAAG -3'
(R):5'- ATTGCAACGTGACGCCCTTG -3'

Posted On

2017-08-16