Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02937:Pabpc4l'

364348

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pabpc4l

Ensembl Gene

ENSMUSG00000090919

Gene Name

poly(A) binding protein, cytoplasmic 4-like

Synonyms

C330050A14Rik, EG241989

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

46396632-46402654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46400725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 306 (D306E)

Ref Sequence

ENSEMBL: ENSMUSP00000141300 (fasta)

Gene Model

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

AlphaFold

G5E8X2

Predicted Effect

probably benign
Transcript: ENSMUST00000166505
AA Change: D306E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: D306E

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: ENSMUST00000192793
AA Change: D306E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: D306E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,206,049 (GRCm39)	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,085,127 (GRCm39)		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,536,783 (GRCm39)	I160V	probably benign	Het
Arhgap29	G	A	3: 121,767,698 (GRCm39)	E47K	probably damaging	Het
Arhgef12	T	A	9: 42,927,216 (GRCm39)	S303C	probably damaging	Het
Bap1	A	G	14: 30,980,284 (GRCm39)	N644S	probably benign	Het
Cc2d1b	A	G	4: 108,489,091 (GRCm39)	E796G	probably damaging	Het
Cfh	C	A	1: 140,033,180 (GRCm39)	R788L	probably benign	Het
Cldn1	A	G	16: 26,179,623 (GRCm39)	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,487,619 (GRCm39)	M292T	possibly damaging	Het
Cyp11b1	T	C	15: 74,708,408 (GRCm39)	R385G	possibly damaging	Het
Cyp4f37	T	C	17: 32,844,163 (GRCm39)	L89P	probably benign	Het
Dach1	A	G	14: 98,153,231 (GRCm39)		probably null	Het
Dhtkd1	A	G	2: 5,922,716 (GRCm39)	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755 (GRCm39)	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,464,591 (GRCm39)	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,671,952 (GRCm39)	I151N	probably damaging	Het
Far1	T	A	7: 113,139,855 (GRCm39)	I101N	probably damaging	Het
Gm21985	T	C	2: 112,172,207 (GRCm39)	S384P	probably benign	Het
Gnb5	T	C	9: 75,247,471 (GRCm39)	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,736,572 (GRCm39)	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,583,017 (GRCm39)	V284A	probably benign	Het
Idh2	T	C	7: 79,748,661 (GRCm39)	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,040,500 (GRCm39)	Q737*	probably null	Het
Kcnj13	T	C	1: 87,314,175 (GRCm39)	D349G	probably damaging	Het
Lgsn	A	T	1: 31,243,318 (GRCm39)	T467S	possibly damaging	Het
Map9	T	A	3: 82,270,819 (GRCm39)	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,661,827 (GRCm39)	C455R	probably damaging	Het
Nes	A	G	3: 87,887,186 (GRCm39)	H1771R	probably benign	Het
Nkain2	T	C	10: 32,205,840 (GRCm39)	Y65C	probably damaging	Het
Or51a43	T	A	7: 103,718,056 (GRCm39)	M61L	probably damaging	Het
Or51b6b	A	T	7: 103,310,112 (GRCm39)	V115D	probably damaging	Het
Or6aa1	T	C	7: 86,043,798 (GRCm39)	K303E	possibly damaging	Het
Parp12	A	T	6: 39,079,515 (GRCm39)	Y332N	probably damaging	Het
Parvb	A	T	15: 84,193,154 (GRCm39)	K316M	probably damaging	Het
Pde8a	T	A	7: 80,945,519 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,833,471 (GRCm39)	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,281,016 (GRCm39)	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,334,936 (GRCm39)		probably null	Het
Rigi	C	T	4: 40,229,661 (GRCm39)	C86Y	probably benign	Het
Skap2	T	C	6: 51,886,351 (GRCm39)	N175D	probably benign	Het
Slc44a3	A	G	3: 121,303,970 (GRCm39)		probably benign	Het
Smurf2	G	A	11: 106,736,873 (GRCm39)	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,004,778 (GRCm39)	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tll1	A	C	8: 64,658,319 (GRCm39)	Y33*	probably null	Het
Tmem59	A	T	4: 107,054,782 (GRCm39)	T196S	probably damaging	Het
Ttll4	C	A	1: 74,718,662 (GRCm39)	A171D	possibly damaging	Het
Ttn	T	C	2: 76,641,513 (GRCm39)	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,717,621 (GRCm39)		probably benign	Het
Xpc	C	A	6: 91,477,119 (GRCm39)	G327W	probably damaging	Het
Zbtb7a	A	G	10: 80,980,132 (GRCm39)	S109G	probably benign	Het
Zfyve26	T	C	12: 79,285,794 (GRCm39)	M2328V	probably benign	Het

Other mutations in Pabpc4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Pabpc4l	APN	3	46,401,507 (GRCm39)	missense	possibly damaging	0.80
IGL01594:Pabpc4l	APN	3	46,401,581 (GRCm39)	missense	probably damaging	1.00
IGL01727:Pabpc4l	APN	3	46,401,100 (GRCm39)	missense	probably damaging	1.00
IGL02985:Pabpc4l	APN	3	46,401,017 (GRCm39)	missense	possibly damaging	0.52
IGL03393:Pabpc4l	APN	3	46,400,972 (GRCm39)	missense	probably damaging	0.98
R0734:Pabpc4l	UTSW	3	46,401,408 (GRCm39)	missense	possibly damaging	0.71
R1889:Pabpc4l	UTSW	3	46,400,798 (GRCm39)	missense	probably benign	0.00
R1928:Pabpc4l	UTSW	3	46,401,066 (GRCm39)	missense	probably damaging	1.00
R2118:Pabpc4l	UTSW	3	46,401,276 (GRCm39)	missense	probably benign	0.00
R2119:Pabpc4l	UTSW	3	46,401,276 (GRCm39)	missense	probably benign	0.00
R2124:Pabpc4l	UTSW	3	46,401,276 (GRCm39)	missense	probably benign	0.00
R2238:Pabpc4l	UTSW	3	46,401,137 (GRCm39)	missense	probably damaging	1.00
R4740:Pabpc4l	UTSW	3	46,400,579 (GRCm39)	missense	probably benign	0.03
R4740:Pabpc4l	UTSW	3	46,400,570 (GRCm39)	missense	possibly damaging	0.95
R4897:Pabpc4l	UTSW	3	46,401,578 (GRCm39)	missense	probably damaging	1.00
R4911:Pabpc4l	UTSW	3	46,400,597 (GRCm39)	missense	possibly damaging	0.88
R5310:Pabpc4l	UTSW	3	46,401,276 (GRCm39)	missense	probably benign	0.00
R5532:Pabpc4l	UTSW	3	46,401,044 (GRCm39)	missense	probably benign	0.01
R5734:Pabpc4l	UTSW	3	46,401,124 (GRCm39)	splice site	probably null
R6200:Pabpc4l	UTSW	3	46,401,138 (GRCm39)	missense	probably damaging	1.00
R6994:Pabpc4l	UTSW	3	46,401,345 (GRCm39)	missense	possibly damaging	0.95
R7401:Pabpc4l	UTSW	3	46,401,024 (GRCm39)	missense	probably damaging	0.98
R7401:Pabpc4l	UTSW	3	46,400,687 (GRCm39)	missense	probably damaging	1.00
R7554:Pabpc4l	UTSW	3	46,401,549 (GRCm39)	missense	probably benign	0.30
R8321:Pabpc4l	UTSW	3	46,400,729 (GRCm39)	missense	probably damaging	1.00
R8506:Pabpc4l	UTSW	3	46,400,832 (GRCm39)	nonsense	probably null
R8998:Pabpc4l	UTSW	3	46,400,783 (GRCm39)	missense	probably benign	0.01
R8999:Pabpc4l	UTSW	3	46,400,783 (GRCm39)	missense	probably benign	0.01
R9320:Pabpc4l	UTSW	3	46,401,326 (GRCm39)	missense	probably damaging	0.99
R9385:Pabpc4l	UTSW	3	46,401,137 (GRCm39)	missense	probably damaging	1.00
R9669:Pabpc4l	UTSW	3	46,401,267 (GRCm39)	missense	probably damaging	1.00
R9737:Pabpc4l	UTSW	3	46,401,267 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18