Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02427:Tbx22'

292959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbx22

Ensembl Gene

ENSMUSG00000031241

Gene Name

T-box 22

Synonyms

D230020M15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02427

Quality Score

Status

Chromosome

Chromosomal Location

106711570-106732584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106724777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 17 (P17T)

Ref Sequence

ENSEMBL: ENSMUSP00000127321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068451] [ENSMUST00000118986] [ENSMUST00000168174] [ENSMUST00000168403] [ENSMUST00000172682]

AlphaFold

Q8K402

Predicted Effect

probably damaging
Transcript: ENSMUST00000068451
AA Change: P17T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063611
Gene: ENSMUSG00000031241
AA Change: P17T

Domain	Start	End	E-Value	Type
Pfam:T-box	3	79	6.9e-30	PFAM
low complexity region	112	141	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118986
AA Change: P219T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112544
Gene: ENSMUSG00000031241
AA Change: P219T

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
low complexity region	74	87	N/A	INTRINSIC
TBOX	88	285	5.58e-116	SMART
low complexity region	314	343	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168174
AA Change: P233T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128247
Gene: ENSMUSG00000031241
AA Change: P233T

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
low complexity region	88	101	N/A	INTRINSIC
TBOX	102	299	5.58e-116	SMART
low complexity region	328	357	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168403
AA Change: P17T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127321
Gene: ENSMUSG00000031241
AA Change: P17T

Domain	Start	End	E-Value	Type
Pfam:T-box	3	79	6.9e-30	PFAM
low complexity region	112	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172682

SMART Domains

Protein: ENSMUSP00000133607
Gene: ENSMUSG00000031241

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Half of homozygous female and hemizygous male null mice die neonatally due to breathing or feeding deficits, and show reduced bone formation in the posterior hard palate leading to submucous cleft palate, ankyloglossia, persistent oro-nasal membranes andoccasional overt clefts and choanal atresia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,381,829 (GRCm39)	G311D	probably damaging	Het
Ablim1	A	T	19: 57,068,312 (GRCm39)		probably benign	Het
Adgrg2	T	C	X: 159,274,400 (GRCm39)	F863S	probably damaging	Het
B3galt2	A	T	1: 143,522,254 (GRCm39)	H130L	probably benign	Het
Bbs2	G	A	8: 94,807,746 (GRCm39)	P378S	possibly damaging	Het
Ccdc154	A	T	17: 25,390,731 (GRCm39)		probably null	Het
Ccdc88c	C	T	12: 100,887,851 (GRCm39)	C1543Y	probably damaging	Het
Cdcp3	T	A	7: 130,846,517 (GRCm39)	V647E	probably damaging	Het
Cfap77	A	T	2: 28,845,592 (GRCm39)	C258*	probably null	Het
Cpsf4l	T	G	11: 113,600,324 (GRCm39)		probably benign	Het
Csrnp3	G	A	2: 65,708,380 (GRCm39)		probably benign	Het
Cul9	G	A	17: 46,813,558 (GRCm39)	T2305I	possibly damaging	Het
Cwf19l1	G	A	19: 44,121,462 (GRCm39)	Q29*	probably null	Het
Cwf19l2	G	T	9: 3,456,817 (GRCm39)	V717L	probably benign	Het
Cyp1a1	A	G	9: 57,607,858 (GRCm39)	Y162C	probably damaging	Het
Dlg5	T	C	14: 24,216,275 (GRCm39)	D589G	probably damaging	Het
Dmbt1	G	T	7: 130,689,815 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,784,595 (GRCm39)	Y705H	possibly damaging	Het
Fancd2	T	A	6: 113,526,313 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,443,184 (GRCm39)	N2527Y	probably damaging	Het
Gm7694	T	C	1: 170,130,113 (GRCm39)	D95G	probably benign	Het
Haus5	T	C	7: 30,361,196 (GRCm39)	T115A	probably benign	Het
Kdm3a	A	T	6: 71,569,184 (GRCm39)		probably benign	Het
Klra6	T	C	6: 129,993,680 (GRCm39)	D197G	possibly damaging	Het
Lap3	T	C	5: 45,668,475 (GRCm39)	V429A	probably damaging	Het
Mroh2b	G	T	15: 4,981,042 (GRCm39)		probably benign	Het
Myh9	T	A	15: 77,660,004 (GRCm39)	Q88L	probably damaging	Het
Myo5a	T	C	9: 75,083,900 (GRCm39)		probably benign	Het
Negr1	C	T	3: 156,267,827 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,025 (GRCm39)	D570V	probably damaging	Het
Nlrp9b	T	G	7: 19,776,426 (GRCm39)	C337W	probably damaging	Het
Obscn	A	T	11: 58,957,988 (GRCm39)	C3780S	probably damaging	Het
Or1e19	A	T	11: 73,316,487 (GRCm39)	F107L	probably damaging	Het
Piwil2	T	A	14: 70,635,583 (GRCm39)		probably benign	Het
Ppp6r3	T	C	19: 3,516,580 (GRCm39)	S213G	probably null	Het
Pxdn	T	A	12: 30,034,531 (GRCm39)	C39S	probably damaging	Het
Raf1	T	C	6: 115,608,288 (GRCm39)	N241S	probably benign	Het
Rapgef3	A	T	15: 97,645,017 (GRCm39)		probably null	Het
Rhox2h	C	T	X: 36,854,526 (GRCm39)	G72D	probably benign	Het
Sbf1	T	C	15: 89,190,188 (GRCm39)		probably benign	Het
Sema5a	T	C	15: 32,673,690 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,688 (GRCm39)	D993G	probably damaging	Het
Slc5a4b	A	T	10: 75,894,713 (GRCm39)	C598S	possibly damaging	Het
Sorl1	T	C	9: 41,952,986 (GRCm39)	D685G	probably damaging	Het
Sulf2	C	T	2: 165,931,218 (GRCm39)	R263H	probably damaging	Het
Tspoap1	A	T	11: 87,653,341 (GRCm39)	T136S	probably benign	Het
Tyw5	T	C	1: 57,427,884 (GRCm39)	E240G	possibly damaging	Het
Umodl1	C	T	17: 31,187,415 (GRCm39)		probably benign	Het
Vmn1r60	T	C	7: 5,547,780 (GRCm39)	T107A	probably damaging	Het
Zbbx	T	C	3: 75,046,905 (GRCm39)	T121A	probably benign	Het
Zbtb11	A	G	16: 55,802,713 (GRCm39)	D241G	possibly damaging	Het
Zfp445	T	C	9: 122,681,295 (GRCm39)	H882R	probably benign	Het
Zscan30	T	C	18: 24,104,533 (GRCm39)		noncoding transcript	Het

Other mutations in Tbx22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
E0370:Tbx22	UTSW	X	106,728,759 (GRCm39)	missense	probably benign	0.00
PIT1430001:Tbx22	UTSW	X	106,720,611 (GRCm39)	missense	probably damaging	0.99
R0714:Tbx22	UTSW	X	106,728,731 (GRCm39)	missense	probably benign	0.45
Z1177:Tbx22	UTSW	X	106,711,713 (GRCm39)	missense	possibly damaging	0.79

Posted On

2015-04-16