Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03231:Tpbpb'

413888

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpbpb

Ensembl Gene

ENSMUSG00000062705

Gene Name

trophoblast specific protein beta

Synonyms

1600012N09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL03231

Quality Score

Status

Chromosome

Chromosomal Location

61049109-61052661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61049996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 44 (N44K)

Ref Sequence

ENSEMBL: ENSMUSP00000153438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021884] [ENSMUST00000080766] [ENSMUST00000171347] [ENSMUST00000223698] [ENSMUST00000223978] [ENSMUST00000225167] [ENSMUST00000225859]

AlphaFold

Q9CQC0

Predicted Effect

probably benign
Transcript: ENSMUST00000021884

SMART Domains

Protein: ENSMUSP00000021884
Gene: ENSMUSG00000074874

Domain	Start	End	E-Value	Type
Inhibitor_I29	16	75	1.85e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080766
AA Change: N44K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079588
Gene: ENSMUSG00000062705
AA Change: N44K

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171347

SMART Domains

Protein: ENSMUSP00000131083
Gene: ENSMUSG00000074874

Domain	Start	End	E-Value	Type
Inhibitor_I29	16	75	1.85e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000223698
AA Change: N44K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000223978
AA Change: N44K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000225167

Predicted Effect

probably benign
Transcript: ENSMUST00000225382

Predicted Effect

probably benign
Transcript: ENSMUST00000225802

Predicted Effect

probably benign
Transcript: ENSMUST00000225859

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,046,094 (GRCm39)	F277V	probably damaging	Het
Arel1	T	A	12: 84,981,084 (GRCm39)	T308S	probably benign	Het
Asic1	T	A	15: 99,596,983 (GRCm39)	H548Q	probably benign	Het
B3galt1	T	C	2: 67,948,947 (GRCm39)	Y221H	probably damaging	Het
Bltp2	A	G	11: 78,159,528 (GRCm39)	T526A	probably benign	Het
Brs3	G	T	X: 56,090,804 (GRCm39)	C221F	probably benign	Het
Capn7	G	A	14: 31,077,247 (GRCm39)	G322R	probably damaging	Het
Ccdc138	T	C	10: 58,409,528 (GRCm39)	L619P	probably damaging	Het
Cdh22	C	T	2: 164,958,126 (GRCm39)	V614I	probably benign	Het
Dnah5	C	T	15: 28,311,294 (GRCm39)	R1758W	probably damaging	Het
Dr1	T	C	5: 108,423,474 (GRCm39)	V87A	probably benign	Het
F830045P16Rik	A	G	2: 129,302,393 (GRCm39)	S400P	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,147 (GRCm39)	E1478G	possibly damaging	Het
Fyb2	T	A	4: 104,843,460 (GRCm39)	Y353*	probably null	Het
Gm28043	A	G	17: 29,854,916 (GRCm39)	D457G	probably damaging	Het
Gsap	T	C	5: 21,434,164 (GRCm39)	V260A	probably damaging	Het
Kcnt2	A	T	1: 140,461,740 (GRCm39)		probably benign	Het
Magee2	A	T	X: 103,899,944 (GRCm39)	L236M	probably damaging	Het
Map4k3	A	T	17: 80,905,104 (GRCm39)	V729E	probably damaging	Het
Myh13	A	G	11: 67,242,817 (GRCm39)	E910G	possibly damaging	Het
Nbeal1	G	T	1: 60,275,618 (GRCm39)	A651S	probably benign	Het
Nhsl3	C	T	4: 129,117,474 (GRCm39)	V385I	possibly damaging	Het
Nuak2	A	T	1: 132,255,915 (GRCm39)	D188V	probably damaging	Het
Nup210l	A	G	3: 90,096,852 (GRCm39)	T1354A	probably damaging	Het
Or10q1	A	T	19: 13,726,749 (GRCm39)	Q93L	probably benign	Het
Pof1b	C	T	X: 111,554,987 (GRCm39)	S506N	possibly damaging	Het
Prrt3	A	G	6: 113,474,485 (GRCm39)	S246P	possibly damaging	Het
Rps6ka6	T	A	X: 110,360,018 (GRCm39)	T43S	probably benign	Het
Slc19a2	G	T	1: 164,088,449 (GRCm39)	W98L	probably damaging	Het
Snap29	C	T	16: 17,244,964 (GRCm39)	S195L	probably benign	Het
Stt3b	C	T	9: 115,073,062 (GRCm39)	G815S	unknown	Het
Tm9sf2	T	G	14: 122,378,664 (GRCm39)	I256R	possibly damaging	Het
Trim13	A	G	14: 61,842,994 (GRCm39)	E337G	probably benign	Het
Trmt6	A	T	2: 132,657,756 (GRCm39)	D33E	probably benign	Het
Trpm6	T	A	19: 18,796,545 (GRCm39)	S800R	probably benign	Het
V1rd19	A	G	7: 23,703,328 (GRCm39)	I265V	probably benign	Het
Xkrx	A	G	X: 133,051,391 (GRCm39)	L420P	probably damaging	Het
Zfp618	T	C	4: 63,012,716 (GRCm39)	Y167H	probably damaging	Het

Other mutations in Tpbpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Tpbpb	APN	13	61,049,948 (GRCm39)	missense	probably benign
IGL02387:Tpbpb	APN	13	61,049,668 (GRCm39)	makesense	probably null
R0928:Tpbpb	UTSW	13	61,049,989 (GRCm39)	missense	probably benign	0.06
R1699:Tpbpb	UTSW	13	61,049,977 (GRCm39)	missense	probably benign	0.07
R1868:Tpbpb	UTSW	13	61,050,344 (GRCm39)	intron	probably benign
R7635:Tpbpb	UTSW	13	61,049,925 (GRCm39)	missense	probably benign
R8772:Tpbpb	UTSW	13	61,049,193 (GRCm39)	intron	probably benign
X0066:Tpbpb	UTSW	13	61,049,998 (GRCm39)	missense	probably benign	0.11

Posted On

2016-08-02