Mutagenetix > Incidental Mutation

Incidental Mutation 'R3692:Tpbpa'

268831

Institutional Source

Beutler Lab

Gene Symbol

Tpbpa

Ensembl Gene

ENSMUSG00000033834

Gene Name

trophoblast specific protein alpha

Synonyms

Tb-1, clone 4311, Tb1, Tpbp, 4311

MMRRC Submission

040687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R3692 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61086306-61089750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61087827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 88 (H88L)

Ref Sequence

ENSEMBL: ENSMUSP00000021885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021880] [ENSMUST00000021885] [ENSMUST00000224054] [ENSMUST00000225167] [ENSMUST00000225275] [ENSMUST00000225936] [ENSMUST00000225859]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021880

SMART Domains

Protein: ENSMUSP00000021880
Gene: ENSMUSG00000044258

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Inhibitor_I29	40	99	6.2e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021885
AA Change: H88L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021885
Gene: ENSMUSG00000033834
AA Change: H88L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223750

Predicted Effect

probably benign
Transcript: ENSMUST00000224054

Predicted Effect

probably benign
Transcript: ENSMUST00000225167

Predicted Effect

probably benign
Transcript: ENSMUST00000225275

Predicted Effect

probably benign
Transcript: ENSMUST00000225382

Predicted Effect

probably benign
Transcript: ENSMUST00000225802

Predicted Effect

probably benign
Transcript: ENSMUST00000225936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225498

Predicted Effect

probably benign
Transcript: ENSMUST00000225859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225966

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	C	5: 121,657,385 (GRCm39)	D636G	probably damaging	Het
Adgrv1	A	G	13: 81,672,719 (GRCm39)	V2218A	possibly damaging	Het
Ano5	T	A	7: 51,240,327 (GRCm39)	Y752N	probably damaging	Het
Bltp2	A	G	11: 78,160,335 (GRCm39)	D598G	probably damaging	Het
Calca	T	C	7: 114,233,796 (GRCm39)	E45G	probably damaging	Het
Cdk8	C	T	5: 146,220,478 (GRCm39)	R166*	probably null	Het
Chsy1	T	A	7: 65,821,001 (GRCm39)	M412K	probably damaging	Het
Cic	T	A	7: 24,988,338 (GRCm39)	Y1675*	probably null	Het
Col1a2	T	A	6: 4,510,710 (GRCm39)	D53E	possibly damaging	Het
Dennd6b	A	G	15: 89,071,030 (GRCm39)		probably benign	Het
Fut10	T	A	8: 31,726,048 (GRCm39)	Y268N	possibly damaging	Het
Glrx3	T	C	7: 137,060,846 (GRCm39)		probably benign	Het
Gucy1b2	T	A	14: 62,642,076 (GRCm39)	N697I	probably damaging	Het
Ifi208	T	C	1: 173,510,438 (GRCm39)	S198P	possibly damaging	Het
Krt34	A	G	11: 99,929,857 (GRCm39)	V213A	probably damaging	Het
Lats2	T	C	14: 57,928,998 (GRCm39)	N959S	probably damaging	Het
Mat1a	A	G	14: 40,843,338 (GRCm39)	Y288C	probably damaging	Het
Mtif2	A	T	11: 29,490,718 (GRCm39)	H474L	probably benign	Het
Myh8	A	G	11: 67,192,744 (GRCm39)	I1512V	probably damaging	Het
Nkx2-6	T	C	14: 69,409,476 (GRCm39)	S76P	probably benign	Het
Noxred1	G	A	12: 87,280,240 (GRCm39)	R31W	probably benign	Het
Or14c46	T	A	7: 85,918,703 (GRCm39)	Q98L	probably damaging	Het
Or4a69	T	A	2: 89,313,240 (GRCm39)	M80L	probably benign	Het
Pcdhb16	C	A	18: 37,611,340 (GRCm39)	T100K	probably benign	Het
Pcdhga10	T	C	18: 37,881,384 (GRCm39)	C382R	probably damaging	Het
Pdgfra	A	T	5: 75,349,948 (GRCm39)	Y944F	possibly damaging	Het
Pkhd1	A	G	1: 20,625,353 (GRCm39)	I741T	possibly damaging	Het
Ppp1r10	A	G	17: 36,241,760 (GRCm39)	D845G	unknown	Het
Rfk	C	A	19: 17,376,834 (GRCm39)		probably null	Het
Rgs11	C	T	17: 26,423,302 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,865,705 (GRCm39)	V951A	probably benign	Het
St3gal5	T	C	6: 72,126,013 (GRCm39)	V286A	probably benign	Het
St7l	T	C	3: 104,798,870 (GRCm39)	M320T	probably benign	Het
Tnfrsf1b	G	T	4: 144,954,092 (GRCm39)	Q86K	probably benign	Het
Tox	T	C	4: 6,697,535 (GRCm39)	I423V	probably benign	Het
Vmn1r236	A	G	17: 21,507,068 (GRCm39)	Y62C	probably benign	Het
Ythdc1	A	G	5: 86,970,526 (GRCm39)	I399M	probably damaging	Het
Zfp948	T	G	17: 21,807,838 (GRCm39)	D343E	probably benign	Het
Zswim6	A	G	13: 107,863,076 (GRCm39)		noncoding transcript	Het

Other mutations in Tpbpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01971:Tpbpa	APN	13	61,088,047 (GRCm39)	missense	possibly damaging	0.95
R0940:Tpbpa	UTSW	13	61,087,867 (GRCm39)	missense	probably damaging	1.00
R2022:Tpbpa	UTSW	13	61,088,036 (GRCm39)	missense	probably benign	0.12
R7187:Tpbpa	UTSW	13	61,088,399 (GRCm39)	unclassified	probably benign
R8745:Tpbpa	UTSW	13	61,087,778 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CAACTCCAGCCACATTGTATGG -3'
(R):5'- GGCTCCAACATAGAAATGAGTGC -3'

Sequencing Primer
(F):5'- TCCAGCCACATTGTATGGAGCAG -3'
(R):5'- CATAGAAATGAGTGCCTCCGGTC -3'

Posted On

2015-02-19