Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Pabpc4l'

710244

Institutional Source

Beutler Lab

Gene Symbol

Pabpc4l

Ensembl Gene

ENSMUSG00000090919

Gene Name

poly(A) binding protein, cytoplasmic 4-like

Synonyms

EG241989, C330050A14Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46442197-46448219 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46446702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 169 (V169E)

Ref Sequence

ENSEMBL: ENSMUSP00000126224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]

AlphaFold

G5E8X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000166505
AA Change: V169E

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

SMART Domains

Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: V169E

Domain	Start	End	E-Value	Type
RRM	11	84	3.4e-17	SMART
RRM	99	170	4.22e-22	SMART
RRM	191	263	2.44e-27	SMART
RRM	294	365	7.24e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192793
AA Change: V169E

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

SMART Domains

Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: V169E

Domain	Start	End	E-Value	Type
RRM	11	84	3.4e-17	SMART
RRM	99	170	4.22e-22	SMART
RRM	191	263	2.44e-27	SMART
RRM	294	365	7.24e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195436
AA Change: V169E

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

SMART Domains

Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919
AA Change: V169E

Domain	Start	End	E-Value	Type
RRM	11	84	1.5e-19	SMART
RRM	99	170	1.8e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195537

SMART Domains

Protein: ENSMUSP00000141854
Gene: ENSMUSG00000090919

Domain	Start	End	E-Value	Type
Pfam:RRM_1	12	51	8.9e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	probably damaging	Het

Other mutations in Pabpc4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Pabpc4l	APN	3	46447072	missense	possibly damaging	0.80
IGL01594:Pabpc4l	APN	3	46447146	missense	probably damaging	1.00
IGL01727:Pabpc4l	APN	3	46446665	missense	probably damaging	1.00
IGL02937:Pabpc4l	APN	3	46446290	missense	probably benign	0.04
IGL02985:Pabpc4l	APN	3	46446582	missense	possibly damaging	0.52
IGL03393:Pabpc4l	APN	3	46446537	missense	probably damaging	0.98
R0734:Pabpc4l	UTSW	3	46446973	missense	possibly damaging	0.71
R1889:Pabpc4l	UTSW	3	46446363	missense	probably benign	0.00
R1928:Pabpc4l	UTSW	3	46446631	missense	probably damaging	1.00
R2118:Pabpc4l	UTSW	3	46446841	missense	probably benign	0.00
R2119:Pabpc4l	UTSW	3	46446841	missense	probably benign	0.00
R2124:Pabpc4l	UTSW	3	46446841	missense	probably benign	0.00
R2238:Pabpc4l	UTSW	3	46446702	missense	probably damaging	1.00
R4740:Pabpc4l	UTSW	3	46446135	missense	possibly damaging	0.95
R4740:Pabpc4l	UTSW	3	46446144	missense	probably benign	0.03
R4897:Pabpc4l	UTSW	3	46447143	missense	probably damaging	1.00
R4911:Pabpc4l	UTSW	3	46446162	missense	possibly damaging	0.88
R5310:Pabpc4l	UTSW	3	46446841	missense	probably benign	0.00
R5532:Pabpc4l	UTSW	3	46446609	missense	probably benign	0.01
R5734:Pabpc4l	UTSW	3	46446689	splice site	probably null
R6200:Pabpc4l	UTSW	3	46446703	missense	probably damaging	1.00
R6994:Pabpc4l	UTSW	3	46446910	missense	possibly damaging	0.95
R7401:Pabpc4l	UTSW	3	46446252	missense	probably damaging	1.00
R7401:Pabpc4l	UTSW	3	46446589	missense	probably damaging	0.98
R7554:Pabpc4l	UTSW	3	46447114	missense	probably benign	0.30
R8321:Pabpc4l	UTSW	3	46446294	missense	probably damaging	1.00
R8506:Pabpc4l	UTSW	3	46446397	nonsense	probably null
R8998:Pabpc4l	UTSW	3	46446348	missense	probably benign	0.01
R8999:Pabpc4l	UTSW	3	46446348	missense	probably benign	0.01
R9320:Pabpc4l	UTSW	3	46446891	missense	probably damaging	0.99
R9669:Pabpc4l	UTSW	3	46446832	missense	probably damaging	1.00
R9737:Pabpc4l	UTSW	3	46446832	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGGCATCTTTCATCACCTTAAC -3'
(R):5'- ATGCTTGCCTGAGGAGATCG -3'

Sequencing Primer
(F):5'- CACTCAAAGTTTGGCCATATTTGCTG -3'
(R):5'- GTCGGGAATGTGTTTATCAAGAATC -3'

Posted On

2022-04-18