Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Prpf38a'

280653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf38a

Ensembl Gene

ENSMUSG00000063800

Gene Name

PRP38 pre-mRNA processing factor 38 (yeast) domain containing A

Synonyms

2410002M20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

108422064-108436533 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108436238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 25 (I25T)

Ref Sequence

ENSEMBL: ENSMUSP00000078207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079213] [ENSMUST00000102744]

AlphaFold

Q4FK66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079213
AA Change: I25T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078207
Gene: ENSMUSG00000063800
AA Change: I25T

Domain	Start	End	E-Value	Type
Pfam:PRP38	10	175	2.4e-67	PFAM
Pfam:PRP38_assoc	179	262	4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102744

SMART Domains

Protein: ENSMUSP00000099805
Gene: ENSMUSG00000028587

Domain	Start	End	E-Value	Type
BAH	44	170	1.88e-31	SMART
low complexity region	394	417	N/A	INTRINSIC
AAA	505	656	1e-7	SMART
Cdc6_C	757	837	5.45e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139772

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,217,299 (GRCm39)	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,507,491 (GRCm39)		probably benign	Het
Adcy5	G	A	16: 35,103,982 (GRCm39)		probably benign	Het
Adcy6	T	A	15: 98,496,763 (GRCm39)	H504L	possibly damaging	Het
Ank2	A	G	3: 126,731,523 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,916,093 (GRCm39)	D34G	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil1	T	C	13: 24,220,541 (GRCm39)	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,877,038 (GRCm39)	I212V	probably benign	Het
Chl1	A	G	6: 103,652,098 (GRCm39)	D338G	probably benign	Het
Cog6	T	C	3: 52,905,763 (GRCm39)	I361V	probably benign	Het
Dip2c	T	C	13: 9,556,695 (GRCm39)	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,008 (GRCm39)	R34S	possibly damaging	Het
Exph5	A	G	9: 53,284,974 (GRCm39)	N685S	probably benign	Het
Flnc	A	T	6: 29,444,335 (GRCm39)	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,437,184 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,502,819 (GRCm39)	N348S	probably benign	Het
Gspt1	T	C	16: 11,047,080 (GRCm39)	K445R	probably damaging	Het
Hace1	T	C	10: 45,494,700 (GRCm39)	V170A	probably damaging	Het
Hydin	T	C	8: 111,221,047 (GRCm39)	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,912,145 (GRCm39)	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,750,905 (GRCm39)	Q833*	probably null	Het
Myo15a	T	C	11: 60,374,292 (GRCm39)	F96L	probably benign	Het
Myom1	G	T	17: 71,399,132 (GRCm39)	R998L	probably damaging	Het
Nacc2	A	G	2: 25,979,960 (GRCm39)	S159P	probably benign	Het
Or5k15	T	C	16: 58,710,134 (GRCm39)	T150A	probably benign	Het
Or5w10	A	G	2: 87,375,447 (GRCm39)	V147A	probably benign	Het
Or7e177	T	A	9: 20,211,880 (GRCm39)	L128Q	probably damaging	Het
Pbrm1	A	G	14: 30,811,573 (GRCm39)	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,674,737 (GRCm39)	R60C	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,157,796 (GRCm39)	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,308,313 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,667,680 (GRCm39)	Y332H	probably benign	Het
Rpf1	T	C	3: 146,227,022 (GRCm39)	K44E	probably benign	Het
Rusc2	T	C	4: 43,421,685 (GRCm39)	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,756,755 (GRCm39)	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Tkt	T	C	14: 30,293,158 (GRCm39)	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,481,240 (GRCm39)	N249K	probably damaging	Het
Tmpo	A	T	10: 90,999,998 (GRCm39)	S157T	possibly damaging	Het
Tspan32	A	T	7: 142,569,372 (GRCm39)	I144F	probably damaging	Het
Ufsp2	G	A	8: 46,448,685 (GRCm39)	V429I	probably benign	Het
Unc13c	T	A	9: 73,641,679 (GRCm39)		probably benign	Het
Usp47	A	T	7: 111,706,115 (GRCm39)	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,340,946 (GRCm39)		probably benign	Het
Zfp507	G	T	7: 35,475,520 (GRCm39)	L898I	probably damaging	Het

Other mutations in Prpf38a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02327:Prpf38a	APN	4	108,425,607 (GRCm39)	missense	unknown
IGL02407:Prpf38a	APN	4	108,424,836 (GRCm39)	missense	unknown
IGL02901:Prpf38a	APN	4	108,425,615 (GRCm39)	missense	probably damaging	1.00
IGL03069:Prpf38a	APN	4	108,432,628 (GRCm39)	missense	probably damaging	1.00
R4735:Prpf38a	UTSW	4	108,436,242 (GRCm39)	missense	possibly damaging	0.78
R4965:Prpf38a	UTSW	4	108,436,278 (GRCm39)	missense	probably benign	0.09
R5657:Prpf38a	UTSW	4	108,425,621 (GRCm39)	missense	probably damaging	0.99
R5685:Prpf38a	UTSW	4	108,427,351 (GRCm39)	critical splice donor site	probably null
R6882:Prpf38a	UTSW	4	108,427,365 (GRCm39)	missense	probably benign	0.04
R6923:Prpf38a	UTSW	4	108,427,401 (GRCm39)	missense	possibly damaging	0.68
R7813:Prpf38a	UTSW	4	108,436,277 (GRCm39)	missense	probably damaging	1.00
R8181:Prpf38a	UTSW	4	108,434,195 (GRCm39)	missense	probably benign	0.13
R9350:Prpf38a	UTSW	4	108,424,112 (GRCm39)	missense	unknown
R9450:Prpf38a	UTSW	4	108,430,072 (GRCm39)	missense	probably damaging	0.99
X0061:Prpf38a	UTSW	4	108,434,195 (GRCm39)	missense	probably benign	0.13

Posted On

2015-04-16