Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00942:Taf7l2'

28353

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Taf7l2

Ensembl Gene

ENSMUSG00000074734

Gene Name

Taf7l2

Synonyms

4933416C03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL00942

Quality Score

Status

Chromosome

Chromosomal Location

115947572-115949607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115949341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 62 (S62P)

Ref Sequence

ENSEMBL: ENSMUSP00000096867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063470] [ENSMUST00000099261]

AlphaFold

Q3V063

Predicted Effect

probably benign
Transcript: ENSMUST00000063470

SMART Domains

Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
PTPc	391	648	3.74e-108	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099261
AA Change: S62P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096867
Gene: ENSMUSG00000074734
AA Change: S62P

Domain	Start	End	E-Value	Type
TAFII55_N	12	190	2.27e-88	SMART
coiled coil region	241	344	N/A	INTRINSIC
low complexity region	351	361	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220165

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	A	C	5: 62,855,732 (GRCm39)	L568*	probably null	Het
Arfgef2	G	A	2: 166,727,773 (GRCm39)	V1574M	probably damaging	Het
Arhgef12	C	T	9: 42,893,296 (GRCm39)	R969H	probably damaging	Het
Cacng1	A	T	11: 107,595,195 (GRCm39)	F127L	probably benign	Het
Cntnap5c	T	C	17: 58,076,593 (GRCm39)	V10A	probably benign	Het
Crtac1	T	G	19: 42,312,233 (GRCm39)	D160A	probably damaging	Het
Csmd3	C	T	15: 47,710,502 (GRCm39)		probably null	Het
Grin3a	A	G	4: 49,770,589 (GRCm39)	F728L	probably damaging	Het
H3c1	T	C	13: 23,945,921 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,515,325 (GRCm39)		probably benign	Het
Iyd	C	T	10: 3,554,070 (GRCm38)	C239F	probably damaging	Het
Madd	A	G	2: 91,000,923 (GRCm39)	V486A	probably damaging	Het
Map3k7	A	G	4: 32,019,539 (GRCm39)	D533G	probably damaging	Het
Matk	A	G	10: 81,094,128 (GRCm39)	D20G	probably benign	Het
Mphosph10	A	G	7: 64,039,503 (GRCm39)	S156P	probably benign	Het
Mtif2	G	A	11: 29,488,753 (GRCm39)	E356K	probably damaging	Het
Ndufb10	T	C	17: 24,943,158 (GRCm39)		probably null	Het
Nipal3	A	T	4: 135,195,904 (GRCm39)	L233Q	possibly damaging	Het
Or7e169	T	C	9: 19,757,555 (GRCm39)	Y120C	probably damaging	Het
Prss32	T	A	17: 24,078,134 (GRCm39)	C273*	probably null	Het
Prtg	T	C	9: 72,799,622 (GRCm39)	S807P	possibly damaging	Het
Ric3	T	G	7: 108,653,619 (GRCm39)	E157D	probably damaging	Het
Ric3	T	A	7: 108,653,620 (GRCm39)	E157V	probably damaging	Het
Slc16a14	G	A	1: 84,900,592 (GRCm39)	T131I	probably damaging	Het
Slc1a2	A	T	2: 102,570,159 (GRCm39)	N137Y	probably damaging	Het
Slc25a27	T	C	17: 43,974,980 (GRCm39)	I94V	probably benign	Het
Slco1a1	G	A	6: 141,892,354 (GRCm39)	T4I	probably benign	Het
Slf1	A	T	13: 77,192,066 (GRCm39)	F923I	possibly damaging	Het
Ttll12	A	C	15: 83,466,649 (GRCm39)	V306G	possibly damaging	Het
Tulp2	G	A	7: 45,165,692 (GRCm39)	V97I	possibly damaging	Het
Vmn2r65	T	G	7: 84,592,761 (GRCm39)	Q482P	probably damaging	Het
Wdr24	T	A	17: 26,045,595 (GRCm39)	N443K	probably benign	Het

Other mutations in Taf7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Taf7l2	APN	10	115,948,931 (GRCm39)	missense	probably benign	0.13
R0325:Taf7l2	UTSW	10	115,949,474 (GRCm39)	missense	probably damaging	1.00
R0467:Taf7l2	UTSW	10	115,949,058 (GRCm39)	missense	probably benign	0.00
R0534:Taf7l2	UTSW	10	115,948,707 (GRCm39)	missense	possibly damaging	0.86
R1068:Taf7l2	UTSW	10	115,949,359 (GRCm39)	missense	probably damaging	0.97
R1102:Taf7l2	UTSW	10	115,949,299 (GRCm39)	missense	probably damaging	1.00
R1421:Taf7l2	UTSW	10	115,949,343 (GRCm39)	missense	probably damaging	1.00
R1601:Taf7l2	UTSW	10	115,949,521 (GRCm39)	missense	probably damaging	0.99
R1834:Taf7l2	UTSW	10	115,948,570 (GRCm39)	missense	probably benign	0.15
R3930:Taf7l2	UTSW	10	115,948,540 (GRCm39)	missense	possibly damaging	0.71
R5799:Taf7l2	UTSW	10	115,948,674 (GRCm39)	missense	probably damaging	1.00
R5908:Taf7l2	UTSW	10	115,949,133 (GRCm39)	missense	probably benign	0.04
R7765:Taf7l2	UTSW	10	115,949,158 (GRCm39)	nonsense	probably null
R8420:Taf7l2	UTSW	10	115,948,440 (GRCm39)	missense	probably benign
R9214:Taf7l2	UTSW	10	115,948,903 (GRCm39)	missense	probably benign	0.05
R9430:Taf7l2	UTSW	10	115,949,282 (GRCm39)	missense	probably damaging	1.00
R9583:Taf7l2	UTSW	10	115,948,931 (GRCm39)	missense	probably benign	0.13

Posted On

2013-04-17