Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Pabpc4l'

574151

Institutional Source

Beutler Lab

Gene Symbol

Pabpc4l

Ensembl Gene

ENSMUSG00000090919

Gene Name

poly(A) binding protein, cytoplasmic 4-like

Synonyms

EG241989, C330050A14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7401 (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 46446252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 319 (I319N)

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: I319N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: I319N

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: I319N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: I319N

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 benign
Transcript: ENSMUST00000195436

SMART Domains

Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly 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	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
R9385:Pabpc4l	UTSW	3	46446702	missense	probably damaging	1.00
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'- GATCATGTTGGGCTCAGTGC -3'
(R):5'- GTGAGTTTTGATAGCCACGAGG -3'

Sequencing Primer
(F):5'- CTTCTGTCCCAGTGCAATGTTGAG -3'
(R):5'- CAGACGATTTTTGTAGGCAGAGC -3'

Posted On

2019-09-13