Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03102:Tceanc2'

418793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tceanc2

Ensembl Gene

ENSMUSG00000028619

Gene Name

transcription elongation factor A (SII) N-terminal and central domain containing 2

Synonyms

2210010B22Rik, 6330404A07Rik, 2210012G02Rik, Tdeanc2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL03102

Quality Score

Status

Chromosome

Chromosomal Location

106991352-107035563 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107004878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 90 (H90L)

Ref Sequence

ENSEMBL: ENSMUSP00000054142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030362] [ENSMUST00000057043] [ENSMUST00000058585] [ENSMUST00000127720] [ENSMUST00000141165]

AlphaFold

Q8R2M0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030362
AA Change: H90L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030362
Gene: ENSMUSG00000028619
AA Change: H90L

Domain	Start	End	E-Value	Type
Pfam:Med26	60	111	7.9e-20	PFAM
Pfam:TFIIS_M	126	207	1.7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057043
AA Change: H90L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059741
Gene: ENSMUSG00000028619
AA Change: H90L

Domain	Start	End	E-Value	Type
Pfam:Med26	60	111	7.9e-20	PFAM
Pfam:TFIIS_M	126	207	1.7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000058585
AA Change: H90L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054142
Gene: ENSMUSG00000028619
AA Change: H90L

Domain	Start	End	E-Value	Type
Pfam:Med26	61	110	5.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129220

Predicted Effect

probably damaging
Transcript: ENSMUST00000141165
AA Change: H90L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115005
Gene: ENSMUSG00000028619
AA Change: H90L

Domain	Start	End	E-Value	Type
Pfam:Med26	60	111	1.1e-19	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,744,804 (GRCm39)		probably null	Het
Alyref	G	A	11: 120,488,591 (GRCm39)	P79L	possibly damaging	Het
Arhgap28	T	C	17: 68,203,231 (GRCm39)	D74G	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdc5l	A	T	17: 45,718,857 (GRCm39)	D586E	probably damaging	Het
Chd3	G	T	11: 69,252,022 (GRCm39)	Y79*	probably null	Het
Cnot3	C	A	7: 3,659,155 (GRCm39)	S467*	probably null	Het
Col18a1	A	T	10: 76,903,457 (GRCm39)		probably benign	Het
Col19a1	C	A	1: 24,367,134 (GRCm39)	G483C	probably damaging	Het
Col5a3	A	C	9: 20,715,931 (GRCm39)		probably null	Het
Dctn5	A	T	7: 121,732,382 (GRCm39)	N9I	probably benign	Het
Emc10	T	A	7: 44,141,413 (GRCm39)	N225I	probably damaging	Het
Fam219b	A	G	9: 57,447,981 (GRCm39)	Y158C	probably damaging	Het
Fras1	T	C	5: 96,874,394 (GRCm39)	V2273A	probably benign	Het
Frem3	T	A	8: 81,339,661 (GRCm39)	H651Q	possibly damaging	Het
Gm4076	T	A	13: 85,275,438 (GRCm39)		noncoding transcript	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Ifnab	T	G	4: 88,609,062 (GRCm39)	T135P	possibly damaging	Het
Jag1	T	C	2: 136,926,608 (GRCm39)	I979V	probably benign	Het
Kank1	G	T	19: 25,403,282 (GRCm39)	M1097I	probably damaging	Het
Kcnq3	A	G	15: 65,900,637 (GRCm39)	V206A	probably damaging	Het
Kel	T	C	6: 41,679,917 (GRCm39)	K91R	probably benign	Het
Kirrel1	G	T	3: 86,990,807 (GRCm39)	R672S	probably damaging	Het
Kmt2d	A	G	15: 98,753,424 (GRCm39)	M143T	probably benign	Het
Kpna1	A	G	16: 35,833,289 (GRCm39)	I122V	probably damaging	Het
Lrpap1	A	G	5: 35,250,694 (GRCm39)	S353P	probably damaging	Het
Mtfr1l	T	A	4: 134,259,543 (GRCm39)	Q11L	probably damaging	Het
Muc5b	G	A	7: 141,416,806 (GRCm39)	V3251M	probably benign	Het
Mup8	C	T	4: 60,219,746 (GRCm39)	D174N	probably benign	Het
Nup155	A	T	15: 8,176,768 (GRCm39)	E1015D	probably benign	Het
Or10ak14	C	A	4: 118,611,131 (GRCm39)	L201F	probably benign	Het
Or9i14	T	C	19: 13,792,735 (GRCm39)	Y73C	probably damaging	Het
P2rx7	T	C	5: 122,801,668 (GRCm39)	F188L	possibly damaging	Het
Pacrg	A	G	17: 11,058,719 (GRCm39)	F13L	probably benign	Het
Palb2	A	T	7: 121,723,722 (GRCm39)	S676T	possibly damaging	Het
Pdia6	T	A	12: 17,331,040 (GRCm39)		probably null	Het
Pfkm	A	T	15: 98,024,266 (GRCm39)	I425F	possibly damaging	Het
Pikfyve	C	T	1: 65,291,626 (GRCm39)	R1282*	probably null	Het
Pole	C	T	5: 110,444,939 (GRCm39)	L432F	probably damaging	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prr5	G	T	15: 84,650,508 (GRCm39)		probably benign	Het
Prxl2b	T	C	4: 154,981,058 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,883,487 (GRCm39)	Y343H	probably damaging	Het
Ptprj	C	T	2: 90,309,312 (GRCm39)	R51K	probably benign	Het
Qars1	A	G	9: 108,386,118 (GRCm39)	D103G	probably benign	Het
Rims2	A	T	15: 39,322,989 (GRCm39)	I768F	possibly damaging	Het
Robo4	T	A	9: 37,315,481 (GRCm39)	V275E	probably damaging	Het
Ryr2	A	G	13: 11,650,468 (GRCm39)		probably benign	Het
Sez6l	T	C	5: 112,623,269 (GRCm39)	H94R	probably benign	Het
Slco1c1	T	A	6: 141,490,553 (GRCm39)	N211K	possibly damaging	Het
Strbp	T	C	2: 37,476,515 (GRCm39)		probably benign	Het
Tdrkh	A	T	3: 94,331,844 (GRCm39)	T90S	possibly damaging	Het
Tiam2	A	G	17: 3,559,823 (GRCm39)	D1288G	probably damaging	Het
Tln1	T	C	4: 43,532,861 (GRCm39)	D2447G	possibly damaging	Het
Tmem63c	G	A	12: 87,112,323 (GRCm39)	V141M	probably benign	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Tprkb	T	A	6: 85,901,400 (GRCm39)	C13S	probably benign	Het
Traf3ip3	T	C	1: 192,877,385 (GRCm39)	T184A	probably damaging	Het
Trpc6	T	A	9: 8,649,302 (GRCm39)	M504K	probably benign	Het
Ttn	G	T	2: 76,597,567 (GRCm39)	S18036*	probably null	Het
Wdfy4	A	T	14: 32,688,392 (GRCm39)	C2914S	probably damaging	Het
Ylpm1	T	A	12: 85,096,032 (GRCm39)		probably benign	Het
Zfp644	T	C	5: 106,785,134 (GRCm39)	H471R	probably damaging	Het
Zfp747l1	T	C	7: 126,983,951 (GRCm39)	T384A	probably benign	Het
Zfyve16	C	T	13: 92,648,325 (GRCm39)	E910K	possibly damaging	Het

Other mutations in Tceanc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1434:Tceanc2	UTSW	4	107,004,837 (GRCm39)	missense	probably benign	0.05
R4664:Tceanc2	UTSW	4	107,022,757 (GRCm39)	missense	probably damaging	1.00
R4666:Tceanc2	UTSW	4	107,022,757 (GRCm39)	missense	probably damaging	1.00
R5279:Tceanc2	UTSW	4	107,034,826 (GRCm39)	splice site	probably null
R5490:Tceanc2	UTSW	4	107,022,846 (GRCm39)	missense	probably benign	0.05
R6057:Tceanc2	UTSW	4	107,004,776 (GRCm39)	missense	probably damaging	1.00
R7402:Tceanc2	UTSW	4	107,004,893 (GRCm39)	missense	probably benign	0.06
R7485:Tceanc2	UTSW	4	107,022,852 (GRCm39)	missense	probably damaging	0.99
R8025:Tceanc2	UTSW	4	106,996,997 (GRCm39)	critical splice acceptor site	probably null
R8120:Tceanc2	UTSW	4	107,034,829 (GRCm39)	missense	probably benign
R8249:Tceanc2	UTSW	4	107,036,190 (GRCm39)	intron	probably benign
R8436:Tceanc2	UTSW	4	107,034,778 (GRCm39)	missense	probably damaging	0.99
Z1176:Tceanc2	UTSW	4	107,004,885 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02