Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Tbrg4'

288740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbrg4

Ensembl Gene

ENSMUSG00000000384

Gene Name

transforming growth factor beta regulated gene 4

Synonyms

2310042P22Rik, TB-12, Cpr2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

6565598-6576067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6568492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 429 (V429A)

Ref Sequence

ENSEMBL: ENSMUSP00000140835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000394] [ENSMUST00000156969] [ENSMUST00000189268] [ENSMUST00000150697] [ENSMUST00000136682]

AlphaFold

Q91YM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000000394
AA Change: V429A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: V429A

Domain	Start	End	E-Value	Type
low complexity region	41	50	N/A	INTRINSIC
Pfam:FAST_1	368	437	5.9e-24	PFAM
Pfam:FAST_2	450	535	7.4e-27	PFAM
RAP	562	619	4.01e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132446

Predicted Effect

probably damaging
Transcript: ENSMUST00000156969
AA Change: V429A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: V429A

Domain	Start	End	E-Value	Type
low complexity region	41	50	N/A	INTRINSIC
Pfam:FAST_1	367	438	1.1e-23	PFAM
Pfam:FAST_2	448	535	7.4e-29	PFAM
RAP	562	619	4.01e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000189268
AA Change: V429A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: V429A

Domain	Start	End	E-Value	Type
low complexity region	41	50	N/A	INTRINSIC
Pfam:FAST_1	367	438	1.1e-23	PFAM
Pfam:FAST_2	448	535	7.4e-29	PFAM
RAP	562	619	4.01e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134016

Predicted Effect

probably benign
Transcript: ENSMUST00000150697

SMART Domains

Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384

Domain	Start	End	E-Value	Type
low complexity region	41	50	N/A	INTRINSIC
SCOP:d1gw5a_	81	250	6e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136682

SMART Domains

Protein: ENSMUSP00000114174
Gene: ENSMUSG00000000384

Domain	Start	End	E-Value	Type
low complexity region	41	50	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or51k2	T	C	7: 103,596,127 (GRCm39)	M118T	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
Or5d47	A	T	2: 87,804,409 (GRCm39)	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1e	T	C	11: 87,122,568 (GRCm39)	H463R	probably benign	Het
Ppm1f	T	A	16: 16,731,951 (GRCm39)	C134S	possibly damaging	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Rfx8	T	C	1: 39,757,640 (GRCm39)	I43V	possibly damaging	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Syt13	T	C	2: 92,771,149 (GRCm39)	F79L	probably benign	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tuft1	A	C	3: 94,523,075 (GRCm39)		probably null	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	probably benign	Het

Other mutations in Tbrg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Tbrg4	APN	11	6,568,522 (GRCm39)	missense	possibly damaging	0.94
IGL02225:Tbrg4	APN	11	6,574,094 (GRCm39)	missense	probably damaging	0.97
PIT4449001:Tbrg4	UTSW	11	6,569,689 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Tbrg4	UTSW	11	6,570,857 (GRCm39)	missense	probably damaging	1.00
R0412:Tbrg4	UTSW	11	6,573,832 (GRCm39)	missense	probably benign
R0732:Tbrg4	UTSW	11	6,570,812 (GRCm39)	missense	probably benign	0.19
R0943:Tbrg4	UTSW	11	6,569,008 (GRCm39)	missense	probably damaging	1.00
R3960:Tbrg4	UTSW	11	6,568,077 (GRCm39)	missense	probably benign
R4618:Tbrg4	UTSW	11	6,570,185 (GRCm39)	intron	probably benign
R4686:Tbrg4	UTSW	11	6,568,468 (GRCm39)	missense	probably benign	0.00
R4767:Tbrg4	UTSW	11	6,570,909 (GRCm39)	missense	probably benign	0.00
R5240:Tbrg4	UTSW	11	6,567,516 (GRCm39)	critical splice donor site	probably null
R5457:Tbrg4	UTSW	11	6,570,947 (GRCm39)	missense	probably damaging	1.00
R5898:Tbrg4	UTSW	11	6,567,372 (GRCm39)	missense	probably damaging	0.98
R7173:Tbrg4	UTSW	11	6,570,810 (GRCm39)	missense	possibly damaging	0.80
R7343:Tbrg4	UTSW	11	6,570,065 (GRCm39)	missense	probably benign	0.28
R8017:Tbrg4	UTSW	11	6,568,517 (GRCm39)	missense	probably damaging	0.99
R8019:Tbrg4	UTSW	11	6,568,517 (GRCm39)	missense	probably damaging	0.99
R8854:Tbrg4	UTSW	11	6,566,691 (GRCm39)	missense	probably benign	0.00
R9294:Tbrg4	UTSW	11	6,574,204 (GRCm39)	missense	probably benign	0.18
X0013:Tbrg4	UTSW	11	6,567,540 (GRCm39)	missense	probably benign	0.06

Posted On

2015-04-16