Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Shox2'

321597

Institutional Source

Beutler Lab

Gene Symbol

Shox2

Ensembl Gene

ENSMUSG00000027833

Gene Name

SHOX homeobox 2

Synonyms

Og12x, Prx3, 6330543G17Rik

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4163 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

66879060-66889104 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 66881104 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: D292G

SMART Domains

Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: D292G

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: D151G

SMART Domains

Protein: ENSMUSP00000125031
Gene: ENSMUSG00000027833
AA Change: D151G

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: D200G

SMART Domains

Protein: ENSMUSP00000123838
Gene: ENSMUSG00000027833
AA Change: D200G

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: D151G

SMART Domains

Protein: ENSMUSP00000124924
Gene: ENSMUSG00000027833
AA Change: D151G

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

0.0990

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bnip5	T	C	17: 29,118,503 (GRCm39)	Y643C	probably benign	Het
Bpifa3	A	G	2: 153,977,516 (GRCm39)	N118S	probably damaging	Het
Chst10	T	A	1: 38,910,904 (GRCm39)	M87L	probably benign	Het
Cnot9	C	T	1: 74,568,006 (GRCm39)	P298L	probably damaging	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or2ag17	A	T	7: 106,389,486 (GRCm39)	C241S	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slc7a5	A	G	8: 122,615,139 (GRCm39)	L236S	probably benign	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zc3h12c	A	T	9: 52,026,999 (GRCm39)	Y788N	probably damaging	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly damaging	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
R4976:Shox2	UTSW	3	66,881,008 (GRCm39)	unclassified	probably benign
R5423:Shox2	UTSW	3	66,881,087 (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

2015-06-12