Mutagenetix > Incidental Mutation

Incidental Mutation 'R4566:Pithd1'

343314

Institutional Source

Beutler Lab

Gene Symbol

Pithd1

Ensembl Gene

ENSMUSG00000028669

Gene Name

PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1

Synonyms

1110049F12Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R4566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135702913-135714555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135704548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 56 (V56A)

Ref Sequence

ENSEMBL: ENSMUSP00000117150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067567] [ENSMUST00000105851] [ENSMUST00000123404] [ENSMUST00000147458]

AlphaFold

Q8BWR2

Predicted Effect

probably benign
Transcript: ENSMUST00000067567

SMART Domains

Protein: ENSMUSP00000064204
Gene: ENSMUSG00000028670

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_2	11	228	4.8e-89	PFAM
Pfam:Abhydrolase_5	26	211	2.6e-12	PFAM
Pfam:Abhydrolase_6	27	167	6.5e-13	PFAM
Pfam:Abhydrolase_3	80	170	3.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105851
AA Change: V149A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101477
Gene: ENSMUSG00000028669
AA Change: V149A

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:PITH	31	175	1.1e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123404
AA Change: V56A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117150
Gene: ENSMUSG00000028669
AA Change: V56A

Domain	Start	End	E-Value	Type
Pfam:PITH	1	65	2.8e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145350

Predicted Effect

probably damaging
Transcript: ENSMUST00000147458
AA Change: V56A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119005
Gene: ENSMUSG00000028669
AA Change: V56A

Domain	Start	End	E-Value	Type
Pfam:PITH	1	83	8.9e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150978

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,567,927 (GRCm39)	E5082G	probably damaging	Het
Apol7a	A	T	15: 77,273,951 (GRCm39)	Y170*	probably null	Het
Cfhr1	T	A	1: 139,481,386 (GRCm39)	I165F	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Espnl	C	A	1: 91,272,301 (GRCm39)	P510T	possibly damaging	Het
Fbxw4	A	G	19: 45,580,225 (GRCm39)	V258A	probably benign	Het
Foxq1	T	C	13: 31,743,471 (GRCm39)	M191T	probably benign	Het
Gabrg1	A	T	5: 70,999,484 (GRCm39)	L22I	probably benign	Het
Limk1	A	G	5: 134,715,537 (GRCm39)	L38P	probably benign	Het
Mfhas1	C	T	8: 36,058,203 (GRCm39)	R893C	probably damaging	Het
Mug2	G	A	6: 122,056,597 (GRCm39)	V1181I	probably benign	Het
Or52ac1	A	T	7: 104,245,823 (GRCm39)	C188*	probably null	Het
Plxna4	T	C	6: 32,494,338 (GRCm39)	K93E	probably benign	Het
Ppp2cb	T	C	8: 34,100,723 (GRCm39)	V48A	possibly damaging	Het
Rasl2-9	AGG	A	7: 5,128,374 (GRCm39)		probably null	Het
Rrs1	T	C	1: 9,616,452 (GRCm39)	F235S	probably damaging	Het
Rtl1	G	A	12: 109,559,293 (GRCm39)	L849F	probably damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Trps1	A	G	15: 50,695,074 (GRCm39)	V116A	probably damaging	Het
Vmn2r51	C	T	7: 9,836,341 (GRCm39)	E147K	probably benign	Het
Yy1	T	A	12: 108,778,889 (GRCm39)	I296K	probably damaging	Het

Other mutations in Pithd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0811:Pithd1	UTSW	4	135,704,445 (GRCm39)	splice site	probably benign
R1972:Pithd1	UTSW	4	135,714,340 (GRCm39)	missense	probably damaging	1.00
R4505:Pithd1	UTSW	4	135,706,144 (GRCm39)	missense	probably benign	0.01
R7366:Pithd1	UTSW	4	135,714,361 (GRCm39)	missense	probably benign	0.08
R7997:Pithd1	UTSW	4	135,703,723 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CCACTGAAGACGTTATGATGAAATC -3'
(R):5'- CATTACTTGCTGCTCTGAAGGAG -3'

Sequencing Primer
(F):5'- GTCTACATAATGAGTGCTAGGCCAC -3'
(R):5'- CTCTGAAGGAGCCTGGTGATG -3'

Posted On

2015-09-24