Mutagenetix > Incidental Mutation

Incidental Mutation 'R6021:Paip1'

478962

Institutional Source

Beutler Lab

Gene Symbol

Paip1

Ensembl Gene

ENSMUSG00000025451

Gene Name

polyadenylate binding protein-interacting protein 1

Synonyms

MMRRC Submission

044194-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R6021 (G1)

Quality Score

118.588

Status

Not validated

Chromosome

Chromosomal Location

119565137-119594754 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

T to "TTA,TT" at 119593671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026520] [ENSMUST00000109203] [ENSMUST00000126957] [ENSMUST00000173627] [ENSMUST00000174533]

AlphaFold

Q8VE62

Predicted Effect

probably benign
Transcript: ENSMUST00000026520

SMART Domains

Protein: ENSMUSP00000026520
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
Pfam:PAM2	44	61	8.9e-8	PFAM
MIF4G	80	297	2.62e-46	SMART
low complexity region	373	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109203

SMART Domains

Protein: ENSMUSP00000104826
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
Pfam:PAM2	11	28	3.7e-7	PFAM
MIF4G	47	264	2.62e-46	SMART
low complexity region	340	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126957

SMART Domains

Protein: ENSMUSP00000117256
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
low complexity region	7	38	N/A	INTRINSIC
low complexity region	44	74	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
Pfam:PAM2	128	145	3.3e-7	PFAM
MIF4G	164	381	2.62e-46	SMART
low complexity region	457	469	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132304

SMART Domains

Protein: ENSMUSP00000134617
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
low complexity region	7	38	N/A	INTRINSIC
low complexity region	44	74	N/A	INTRINSIC
low complexity region	79	91	N/A	INTRINSIC
Pfam:PAM2	128	145	6.8e-5	PFAM
Pfam:MIF4G	164	267	1.9e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173627

SMART Domains

Protein: ENSMUSP00000134051
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
Pfam:PAM2	44	61	3.6e-7	PFAM
MIF4G	80	297	2.62e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174533

SMART Domains

Protein: ENSMUSP00000134365
Gene: ENSMUSG00000025451

Domain	Start	End	E-Value	Type
Pfam:MIF4G	49	106	1.4e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	G	4: 123,754,509 (GRCm39)	D141G	possibly damaging	Het
A1bg	T	C	15: 60,791,713 (GRCm39)	E241G	possibly damaging	Het
Abca13	G	A	11: 9,240,465 (GRCm39)	W776*	probably null	Het
Akr1b10	T	A	6: 34,369,309 (GRCm39)		probably null	Het
Aopep	A	G	13: 63,208,896 (GRCm39)	T338A	probably damaging	Het
Atf7	T	C	15: 102,465,908 (GRCm39)	D84G	probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Azi2	T	A	9: 117,876,487 (GRCm39)	M1K	probably null	Het
Boc	T	A	16: 44,309,017 (GRCm39)	M832L	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacna1s	T	C	1: 136,034,225 (GRCm39)	L1050P	probably benign	Het
Celsr2	G	T	3: 108,308,561 (GRCm39)	P1789T	probably benign	Het
Crebbp	G	A	16: 3,903,282 (GRCm39)	R1986C	probably damaging	Het
Crtam	T	A	9: 40,901,477 (GRCm39)	I150F	probably damaging	Het
Crybg1	G	T	10: 43,873,534 (GRCm39)	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,167,552 (GRCm39)	T1017A	probably benign	Het
Dnah10	A	G	5: 124,814,048 (GRCm39)	E396G	probably damaging	Het
Enpp5	A	T	17: 44,396,210 (GRCm39)	Y374F	probably benign	Het
Fzd4	G	A	7: 89,056,942 (GRCm39)	A330T	probably benign	Het
Gabra5	A	G	7: 57,157,740 (GRCm39)	S25P	probably benign	Het
Get1	T	C	16: 95,946,878 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,589 (GRCm39)	Y198C	probably damaging	Het
Gm3173	A	C	14: 15,728,458 (GRCm39)	D39A	probably damaging	Het
Grm2	T	C	9: 106,527,999 (GRCm39)	D295G	probably damaging	Het
H2-T13	T	G	17: 36,392,166 (GRCm39)	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,902,363 (GRCm39)	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,131,173 (GRCm39)	M343K	possibly damaging	Het
Kif19b	A	T	5: 140,455,434 (GRCm39)	M347L	probably damaging	Het
Loxhd1	A	T	18: 77,499,946 (GRCm39)	D120V	probably damaging	Het
Lrp1	T	C	10: 127,413,883 (GRCm39)	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,234,439 (GRCm39)	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,516,005 (GRCm39)	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,803,708 (GRCm39)	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063 (GRCm39)	V128E	probably benign	Het
Mtf2	A	G	5: 108,229,003 (GRCm39)	I69V	possibly damaging	Het
Myh10	T	A	11: 68,699,688 (GRCm39)	S1712T	possibly damaging	Het
Mylk3	A	G	8: 86,091,442 (GRCm39)	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760 (GRCm39)	N100D	probably benign	Het
Notch2	T	C	3: 98,029,288 (GRCm39)	F1017S	probably damaging	Het
Or4a27	G	T	2: 88,559,294 (GRCm39)	Y216*	probably null	Het
Or4a80	A	C	2: 89,582,465 (GRCm39)	S236A	probably benign	Het
Or4c108	G	T	2: 88,803,376 (GRCm39)	Y286*	probably null	Het
P2ry2	T	C	7: 100,647,607 (GRCm39)	T233A	probably benign	Het
Pak1	T	C	7: 97,503,670 (GRCm39)	S2P	probably damaging	Het
Pde8b	A	T	13: 95,162,670 (GRCm39)	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,173,338 (GRCm39)		probably benign	Het
Pramel28	A	T	4: 143,692,336 (GRCm39)	C222S	probably benign	Het
Raver1	A	G	9: 20,987,918 (GRCm39)	L606P	probably damaging	Het
Robo3	C	T	9: 37,333,829 (GRCm39)	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rxfp2	A	G	5: 149,987,202 (GRCm39)	N337S	possibly damaging	Het
Samhd1	T	C	2: 156,962,474 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,079,655 (GRCm39)	V879A	probably benign	Het
Slc4a4	A	T	5: 89,188,261 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,207,012 (GRCm39)	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,383,321 (GRCm39)	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,759,103 (GRCm39)	I632N	probably damaging	Het
Tmem145	C	T	7: 25,008,270 (GRCm39)		probably null	Het
Trmt61a	C	A	12: 111,647,411 (GRCm39)	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,313,391 (GRCm39)	I95L	probably benign	Het
Vmn1r85	T	C	7: 12,818,616 (GRCm39)	E176G	probably benign	Het
Vmn2r75	T	C	7: 85,820,820 (GRCm39)	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,598,210 (GRCm39)	Y78C	probably damaging	Het
Zfp964	G	T	8: 70,115,742 (GRCm39)	S114I	unknown	Het

Other mutations in Paip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02668:Paip1	APN	13	119,574,607 (GRCm39)	missense	probably damaging	1.00
IGL02873:Paip1	APN	13	119,582,348 (GRCm39)	missense	possibly damaging	0.95
R0517:Paip1	UTSW	13	119,584,326 (GRCm39)	missense	probably damaging	1.00
R0791:Paip1	UTSW	13	119,566,854 (GRCm39)	missense	possibly damaging	0.69
R0792:Paip1	UTSW	13	119,566,854 (GRCm39)	missense	possibly damaging	0.69
R1419:Paip1	UTSW	13	119,593,553 (GRCm39)	missense	probably damaging	0.99
R1572:Paip1	UTSW	13	119,588,320 (GRCm39)	unclassified	probably benign
R1935:Paip1	UTSW	13	119,593,550 (GRCm39)	missense	probably damaging	1.00
R1936:Paip1	UTSW	13	119,593,550 (GRCm39)	missense	probably damaging	1.00
R2072:Paip1	UTSW	13	119,566,798 (GRCm39)	missense	possibly damaging	0.88
R3827:Paip1	UTSW	13	119,566,768 (GRCm39)	start codon destroyed	probably null	0.47
R4082:Paip1	UTSW	13	119,593,540 (GRCm39)	missense	probably damaging	1.00
R4092:Paip1	UTSW	13	119,586,449 (GRCm39)	missense	probably benign	0.02
R4854:Paip1	UTSW	13	119,586,425 (GRCm39)	splice site	probably benign
R5012:Paip1	UTSW	13	119,584,338 (GRCm39)	missense	probably benign
R5103:Paip1	UTSW	13	119,574,515 (GRCm39)	missense	possibly damaging	0.95
R5425:Paip1	UTSW	13	119,566,702 (GRCm39)	missense	possibly damaging	0.60
R5592:Paip1	UTSW	13	119,587,334 (GRCm39)	missense	probably damaging	1.00
R5851:Paip1	UTSW	13	119,577,301 (GRCm39)	missense	possibly damaging	0.94
R5929:Paip1	UTSW	13	119,582,326 (GRCm39)	missense	probably damaging	1.00
R5976:Paip1	UTSW	13	119,593,533 (GRCm39)	missense	probably damaging	1.00
R6326:Paip1	UTSW	13	119,566,753 (GRCm39)	missense	probably benign	0.00
R6964:Paip1	UTSW	13	119,587,306 (GRCm39)	missense	possibly damaging	0.61
R7544:Paip1	UTSW	13	119,582,337 (GRCm39)	missense	probably damaging	1.00
R7552:Paip1	UTSW	13	119,577,356 (GRCm39)	missense	possibly damaging	0.83
R7659:Paip1	UTSW	13	119,587,306 (GRCm39)	missense	possibly damaging	0.61
R7660:Paip1	UTSW	13	119,587,306 (GRCm39)	missense	possibly damaging	0.61
R7661:Paip1	UTSW	13	119,587,306 (GRCm39)	missense	possibly damaging	0.61
R7984:Paip1	UTSW	13	119,566,698 (GRCm39)	nonsense	probably null
R8294:Paip1	UTSW	13	119,587,300 (GRCm39)	missense	possibly damaging	0.95
R8884:Paip1	UTSW	13	119,574,553 (GRCm39)	missense	probably damaging	1.00
R8888:Paip1	UTSW	13	119,566,801 (GRCm39)	missense	probably benign	0.02
R8895:Paip1	UTSW	13	119,566,801 (GRCm39)	missense	probably benign	0.02
R9315:Paip1	UTSW	13	119,586,516 (GRCm39)	missense	probably benign	0.24
Z1177:Paip1	UTSW	13	119,584,344 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AGGAGAGTGCATTTAACATCTCCAG -3'
(R):5'- GCAGCCAAAACAGTAGAATTAACTG -3'

Sequencing Primer
(F):5'- TTTTGGATTTGAAAAGCAGCAAGG -3'
(R):5'- TTGGCAGGTAGTGTTAAAC -3'

Posted On

2017-06-26