Mutagenetix > Incidental Mutation

Incidental Mutation 'R1068:Taf7l2'

86093

Institutional Source

Beutler Lab

Gene Symbol

Taf7l2

Ensembl Gene

ENSMUSG00000074734

Gene Name

Taf7l2

Synonyms

4933416C03Rik

MMRRC Submission

039154-MU

Accession Numbers

Essential gene?

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

Stock #

R1068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115947572-115949607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115949359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 56 (V56I)

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

probably damaging
Transcript: ENSMUST00000099261
AA Change: V56I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096867
Gene: ENSMUSG00000074734
AA Change: V56I

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

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	T	18: 69,083,139 (GRCm39)	V25E	unknown	Het
Acsm4	C	A	7: 119,307,933 (GRCm39)	Q357K	probably benign	Het
Adam11	T	G	11: 102,667,204 (GRCm39)	L619R	probably damaging	Het
Ccne2	A	G	4: 11,192,850 (GRCm39)	N17S	probably benign	Het
Cfap52	T	C	11: 67,829,830 (GRCm39)	H313R	probably benign	Het
Chsy3	A	T	18: 59,543,361 (GRCm39)	H833L	probably damaging	Het
Csnk1a1	G	T	18: 61,702,634 (GRCm39)		probably null	Het
Cyp2c40	T	C	19: 39,801,025 (GRCm39)	K77E	possibly damaging	Het
Dmtf1	T	C	5: 9,186,109 (GRCm39)	E159G	probably damaging	Het
Fat3	C	T	9: 15,881,330 (GRCm39)	V3181I	probably benign	Het
Gab1	T	C	8: 81,526,801 (GRCm39)	D99G	possibly damaging	Het
Garem1	T	C	18: 21,301,812 (GRCm39)	E125G	probably benign	Het
Kcnf1	A	G	12: 17,225,475 (GRCm39)	Y249H	probably damaging	Het
Kit	C	T	5: 75,770,178 (GRCm39)	H197Y	probably benign	Het
Memo1	T	A	17: 74,532,550 (GRCm39)	I153F	probably damaging	Het
Myh7	T	A	14: 55,224,776 (GRCm39)	N597I	possibly damaging	Het
Nop2	A	G	6: 125,109,242 (GRCm39)	K23E	probably damaging	Het
Nxf1	T	A	19: 8,740,118 (GRCm39)	V95E	probably damaging	Het
Pamr1	T	A	2: 102,472,590 (GRCm39)	C630S	probably damaging	Het
Ptprh	G	T	7: 4,552,462 (GRCm39)	P934Q	possibly damaging	Het
Ralgapa1	A	G	12: 55,837,095 (GRCm39)		probably null	Het
Ralyl	T	A	3: 13,841,949 (GRCm39)	N28K	probably damaging	Het
Rasgrp1	A	G	2: 117,113,057 (GRCm39)	V785A	probably benign	Het
Rpp30	T	A	19: 36,061,138 (GRCm39)	M1K	probably null	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Snx19	G	A	9: 30,340,314 (GRCm39)	R484Q	probably damaging	Het
Speer4a1	A	T	5: 26,241,024 (GRCm39)	L156Q	probably null	Het
St18	A	G	1: 6,865,786 (GRCm39)	D88G	probably benign	Het
Syt7	T	C	19: 10,421,375 (GRCm39)	Y520H	probably benign	Het
Tle4	C	G	19: 14,429,543 (GRCm39)	W674C	probably damaging	Het
Tnik	T	A	3: 28,587,124 (GRCm39)	Y132N	probably damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vps11	A	T	9: 44,264,316 (GRCm39)	L719Q	probably damaging	Het
Zc3h4	T	G	7: 16,163,161 (GRCm39)	H520Q	unknown	Het
Zdbf2	C	T	1: 63,342,589 (GRCm39)	R323C	possibly damaging	Het
Zfp616	T	A	11: 73,973,767 (GRCm39)	*99K	probably null	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
IGL00942:Taf7l2	APN	10	115,949,341 (GRCm39)	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- TACAGTAGCACCAGCAGAGGTAGC -3'
(R):5'- GCAGGGCAGACTTGAACTCTAAGC -3'

Sequencing Primer
(F):5'- GCTGGCTCTTCTGGGGAC -3'
(R):5'- TTGAACTCTAAGCGCCTCGG -3'

Posted On

2013-11-18