Mutagenetix > Incidental Mutation

Incidental Mutation 'R5716:Pabpn1l'

501375

Institutional Source

Beutler Lab

Gene Symbol

Pabpn1l

Ensembl Gene

ENSMUSG00000069867

Gene Name

poly(A)binding protein nuclear 1-like

Synonyms

LOC382035, ePABP2

MMRRC Submission

043187-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5716 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

123346210-123349474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123347160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 215 (V215A)

Ref Sequence

ENSEMBL: ENSMUSP00000090747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015157] [ENSMUST00000093059] [ENSMUST00000127664] [ENSMUST00000127984] [ENSMUST00000212966]

AlphaFold

Q5XFR0

Predicted Effect

probably benign
Transcript: ENSMUST00000015157

SMART Domains

Protein: ENSMUSP00000015157
Gene: ENSMUSG00000015013

Domain	Start	End	E-Value	Type
Pfam:Sybindin	5	138	3.3e-12	PFAM
Pfam:Sedlin_N	7	137	7.3e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000093059
AA Change: V215A

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

SMART Domains

Protein: ENSMUSP00000090747
Gene: ENSMUSG00000069867
AA Change: V215A

Domain	Start	End	E-Value	Type
RRM	144	216	2.44e-18	SMART
low complexity region	252	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127984

SMART Domains

Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362

Domain	Start	End	E-Value	Type
low complexity region	47	62	N/A	INTRINSIC
TAFH	148	238	5.46e-52	SMART
low complexity region	309	318	N/A	INTRINSIC
Pfam:NHR2	356	422	2.3e-38	PFAM
PDB:2KYG\|C	456	485	2e-10	PDB
Pfam:zf-MYND	533	569	6.9e-10	PFAM
low complexity region	590	613	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183603

Predicted Effect

probably damaging
Transcript: ENSMUST00000212966
AA Change: V230A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,312,594 (GRCm39)	V24A	possibly damaging	Het
Abca14	G	A	7: 119,846,217 (GRCm39)		probably null	Het
Acad12	A	G	5: 121,748,046 (GRCm39)	V124A	probably benign	Het
Alg1	A	T	16: 5,057,820 (GRCm39)	D238V	probably damaging	Het
Bcar3	A	G	3: 122,306,564 (GRCm39)	E179G	probably damaging	Het
Brf2	A	G	8: 27,616,074 (GRCm39)	S104P	probably benign	Het
Coq8a	A	T	1: 180,006,825 (GRCm39)	Y21N	possibly damaging	Het
Cramp1	A	G	17: 25,193,709 (GRCm39)	F924L	probably damaging	Het
Dpyd	G	T	3: 118,692,828 (GRCm39)	C324F	probably damaging	Het
Eif4b	T	C	15: 101,990,494 (GRCm39)	Y33H	probably benign	Het
Fry	C	T	5: 150,293,686 (GRCm39)	Q460*	probably null	Het
Fryl	T	C	5: 73,257,808 (GRCm39)	I665V	probably benign	Het
Gpank1	A	G	17: 35,342,229 (GRCm39)	K90E	probably damaging	Het
Hexd	A	G	11: 121,112,388 (GRCm39)	I482V	probably benign	Het
Hmcn2	G	A	2: 31,226,579 (GRCm39)	E185K	probably damaging	Het
Hmcn2	A	G	2: 31,348,750 (GRCm39)	E4922G	possibly damaging	Het
Ino80d	A	T	1: 63,097,856 (GRCm39)	D679E	probably benign	Het
Kalrn	A	T	16: 33,807,546 (GRCm39)	C2608S	probably benign	Het
Kars1	T	A	8: 112,730,074 (GRCm39)		probably null	Het
Lcn2	A	G	2: 32,275,825 (GRCm39)	V211A	possibly damaging	Het
Lsmem1	A	T	12: 40,230,692 (GRCm39)	V70E	possibly damaging	Het
Med12l	T	C	3: 59,208,798 (GRCm39)		probably null	Het
Megf11	T	C	9: 64,413,392 (GRCm39)	F60L	possibly damaging	Het
Muc21	A	C	17: 35,931,675 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,100,596 (GRCm39)	H4438L	probably benign	Het
Nuf2	C	A	1: 169,349,958 (GRCm39)	V107F	probably benign	Het
Or14j6	A	T	17: 38,214,719 (GRCm39)	Y94F	probably benign	Het
Or6c8	T	A	10: 128,915,424 (GRCm39)	N136I	probably benign	Het
Or9i2	C	T	19: 13,816,003 (GRCm39)	C178Y	probably damaging	Het
Pnn	A	G	12: 59,118,658 (GRCm39)	I414V	probably benign	Het
Rab11fip3	A	G	17: 26,255,638 (GRCm39)	Y539H	probably damaging	Het
Rassf4	A	G	6: 116,638,828 (GRCm39)	V13A	probably benign	Het
Sephs1	T	C	2: 4,889,389 (GRCm39)	F56L	probably benign	Het
Sh3rf3	C	T	10: 58,967,105 (GRCm39)	P816S	probably benign	Het
Skint10	A	G	4: 112,568,844 (GRCm39)	L291P	probably damaging	Het
Thsd7a	T	A	6: 12,343,147 (GRCm39)	I1157L	probably benign	Het
Tmem184c	T	C	8: 78,333,036 (GRCm39)	H85R	possibly damaging	Het
Tmem94	T	C	11: 115,683,254 (GRCm39)	V679A	probably benign	Het
Tpcn2	A	C	7: 144,811,550 (GRCm39)	F566V	possibly damaging	Het
Uqcrc1	A	G	9: 108,776,473 (GRCm39)	N298D	probably benign	Het

Other mutations in Pabpn1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02563:Pabpn1l	APN	8	123,347,122 (GRCm39)	missense	probably damaging	0.96
R0928:Pabpn1l	UTSW	8	123,349,358 (GRCm39)	missense	probably benign	0.03
R0940:Pabpn1l	UTSW	8	123,349,183 (GRCm39)	missense	probably benign	0.03
R8466:Pabpn1l	UTSW	8	123,347,625 (GRCm39)	missense	possibly damaging	0.48
R8534:Pabpn1l	UTSW	8	123,349,358 (GRCm39)	missense	probably benign	0.03
R9602:Pabpn1l	UTSW	8	123,347,101 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCAGGCTCCAAGAATCTTGC -3'
(R):5'- AGGAAGATGCTGGCTATTACC -3'

Sequencing Primer
(F):5'- CAAGAATCTTGCTGCTCAGATC -3'
(R):5'- GGATGTCCTGTGATCACA -3'

Posted On

2017-12-01