Mutagenetix > Incidental Mutation

Incidental Mutation 'R5908:Taf7l2'

460799

Institutional Source

Beutler Lab

Gene Symbol

Taf7l2

Ensembl Gene

ENSMUSG00000074734

Gene Name

Taf7l2

Synonyms

4933416C03Rik

MMRRC Submission

044105-MU

Accession Numbers

Essential gene?

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

Stock #

R5908 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115947572-115949607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115949133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 131 (I131N)

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 benign
Transcript: ENSMUST00000099261
AA Change: I131N

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000096867
Gene: ENSMUSG00000074734
AA Change: I131N

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,624,730 (GRCm39)	L198H	probably damaging	Het
Anks1	C	T	17: 28,214,993 (GRCm39)	T480I	probably damaging	Het
Arhgef18	G	A	8: 3,503,165 (GRCm39)	R857Q	probably damaging	Het
B230208B08Rik	A	G	4: 78,132,297 (GRCm39)		noncoding transcript	Het
B9d2	T	A	7: 25,382,724 (GRCm39)	W33R	probably damaging	Het
Bcl2a1c	A	G	9: 114,159,572 (GRCm39)	T117A	probably benign	Het
Btbd8	T	G	5: 107,655,460 (GRCm39)	D574E	probably damaging	Het
Cabin1	A	G	10: 75,557,366 (GRCm39)	S1091P	probably damaging	Het
Clip3	C	A	7: 29,996,298 (GRCm39)	D64E	probably damaging	Het
Col6a5	C	G	9: 105,740,000 (GRCm39)	D2540H	possibly damaging	Het
Commd5	A	T	15: 76,785,136 (GRCm39)	M178L	probably benign	Het
Crtc3	T	A	7: 80,245,542 (GRCm39)	H361L	possibly damaging	Het
Dip2b	T	A	15: 100,049,065 (GRCm39)	L153Q	possibly damaging	Het
Eif2s1	T	A	12: 78,926,817 (GRCm39)	V189D	probably damaging	Het
Etl4	C	T	2: 20,748,718 (GRCm39)	A483V	probably damaging	Het
Foxo3	T	C	10: 42,072,583 (GRCm39)	I645V	probably benign	Het
Gm4841	A	G	18: 60,403,506 (GRCm39)	S196P	possibly damaging	Het
Hip1	A	G	5: 135,453,717 (GRCm39)		probably null	Het
Il36rn	G	T	2: 24,167,502 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,106,371 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,124,523 (GRCm39)	D259G	probably benign	Het
Lyst	T	A	13: 13,871,346 (GRCm39)	Y2694*	probably null	Het
Map4k2	T	C	19: 6,401,346 (GRCm39)		probably benign	Het
Marchf10	C	T	11: 105,281,065 (GRCm39)	V407I	probably benign	Het
Mast4	C	A	13: 102,874,764 (GRCm39)	V1367F	probably damaging	Het
Mrgprb3	A	T	7: 48,293,366 (GRCm39)	S62T	probably damaging	Het
Mthfd1l	T	C	10: 4,039,392 (GRCm39)	F801S	probably damaging	Het
Nhsl3	A	G	4: 129,115,941 (GRCm39)	S908P	probably damaging	Het
Notch2	T	C	3: 98,031,239 (GRCm39)		probably benign	Het
Nr2e1	T	C	10: 42,448,765 (GRCm39)	S158G	probably benign	Het
Nup214	A	G	2: 31,881,353 (GRCm39)	I404V	probably benign	Het
Or13n4	T	C	7: 106,423,404 (GRCm39)	T110A	probably benign	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pik3r3	A	T	4: 116,129,955 (GRCm39)	D213V	probably benign	Het
Pip5k1b	A	T	19: 24,374,501 (GRCm39)	S27T	possibly damaging	Het
Pkp1	G	A	1: 135,846,621 (GRCm39)	Q44*	probably null	Het
Pnma8b	C	T	7: 16,680,968 (GRCm39)	R651C	unknown	Het
Pnpt1	T	A	11: 29,080,887 (GRCm39)	S44T	probably benign	Het
Polb	A	T	8: 23,132,319 (GRCm39)		probably null	Het
Pom121l2	A	G	13: 22,165,984 (GRCm39)	N85S	probably damaging	Het
Prim1	A	G	10: 127,853,893 (GRCm39)	K104E	probably damaging	Het
Prl8a1	T	A	13: 27,758,040 (GRCm39)	Y223F	probably benign	Het
Rbak	T	G	5: 143,159,391 (GRCm39)	H554P	probably damaging	Het
Serpina3c	T	C	12: 104,117,970 (GRCm39)	R123G	probably benign	Het
Sh3bp4	T	G	1: 89,073,605 (GRCm39)	S818A	probably damaging	Het
Sh3rf3	C	G	10: 58,885,270 (GRCm39)	H384Q	probably benign	Het
Slc9a8	C	T	2: 167,293,090 (GRCm39)		probably benign	Het
Sptbn4	T	C	7: 27,103,678 (GRCm39)	E1181G	probably benign	Het
Taf2	G	A	15: 54,935,402 (GRCm39)		probably benign	Het
Tbc1d9	A	T	8: 83,976,174 (GRCm39)	M578L	probably benign	Het
Tinagl1	G	T	4: 130,066,763 (GRCm39)	Y111*	probably null	Het
Tor2a	T	C	2: 32,651,697 (GRCm39)	L304P	probably damaging	Het
Trp53bp1	A	G	2: 121,067,304 (GRCm39)	V474A	probably benign	Het
Trrap	C	A	5: 144,723,518 (GRCm39)	A325E	probably damaging	Het
Ube4a	A	G	9: 44,859,322 (GRCm39)		probably null	Het
Use1	G	C	8: 71,822,257 (GRCm39)	K239N	probably damaging	Het
Vps9d1	G	T	8: 123,973,563 (GRCm39)	Q407K	probably benign	Het
Zfp36l1	A	T	12: 80,156,449 (GRCm39)	S311T	possibly damaging	Het
Zfp729b	T	C	13: 67,739,374 (GRCm39)	K964E	probably benign	Het
Zfp974	T	A	7: 27,610,382 (GRCm39)	M448L	probably benign	Het
Zfyve28	A	T	5: 34,374,214 (GRCm39)	V600E	possibly damaging	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
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
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'- CTGATGGCTTCAGCATCTGAG -3'
(R):5'- AGGTAGATGGCGTCTCACTG -3'

Sequencing Primer
(F):5'- TTCAGCATCTGAGCGCAG -3'
(R):5'- AGATGGCGTCTCACTGTCTGC -3'

Posted On

2017-02-28