Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02901:Prpf38a'

363583

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: 0.952) question?

Stock #

IGL02901

Quality Score

Status

Chromosome

Chromosomal Location

108422064-108436533 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108425615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 221 (D221G)

Ref Sequence

ENSEMBL: ENSMUSP00000078207 (fasta)

Gene Model

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

AlphaFold

Q4FK66

Predicted Effect

probably damaging
Transcript: ENSMUST00000079213
AA Change: D221G

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

SMART Domains

Protein: ENSMUSP00000078207
Gene: ENSMUSG00000063800
AA Change: D221G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132951

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,524 (GRCm39)	Y189N	probably damaging	Het
Ahdc1	A	G	4: 132,792,245 (GRCm39)	D1162G	possibly damaging	Het
Alpk2	A	G	18: 65,439,482 (GRCm39)	M637T	probably benign	Het
Arvcf	G	A	16: 18,216,992 (GRCm39)	A440T	probably damaging	Het
BC051665	A	T	13: 60,932,532 (GRCm39)	V51E	probably damaging	Het
Clca3a2	A	T	3: 144,522,529 (GRCm39)	V164E	probably damaging	Het
Cox6a2	A	C	7: 127,805,454 (GRCm39)	L5R	probably damaging	Het
Cpsf1	A	T	15: 76,483,696 (GRCm39)	L849*	probably null	Het
Dclk1	A	G	3: 55,395,208 (GRCm39)		probably benign	Het
Fam120b	T	A	17: 15,627,964 (GRCm39)		probably benign	Het
Iqub	A	G	6: 24,454,194 (GRCm39)	L563P	probably damaging	Het
Itgb3	A	T	11: 104,528,772 (GRCm39)	I300F	probably benign	Het
Mdga2	A	G	12: 66,844,583 (GRCm39)		probably benign	Het
Mfsd6	A	G	1: 52,747,632 (GRCm39)	I411T	probably benign	Het
Misp	A	T	10: 79,662,771 (GRCm39)	Y396F	possibly damaging	Het
Nhsl2	T	A	X: 101,122,849 (GRCm39)	V884D	probably benign	Het
Nxf7	A	T	X: 134,487,984 (GRCm39)		probably null	Het
Or10al4	T	A	17: 38,037,311 (GRCm39)	I132K	probably damaging	Het
Or4b12	G	A	2: 90,096,052 (GRCm39)	H241Y	probably damaging	Het
Palld	T	A	8: 62,330,029 (GRCm39)	K283*	probably null	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Proc	T	G	18: 32,256,678 (GRCm39)	T330P	possibly damaging	Het
Prss55	T	A	14: 64,314,576 (GRCm39)	N198I	probably damaging	Het
Rabggta	A	G	14: 55,959,138 (GRCm39)	S10P	probably benign	Het
Sbk2	A	G	7: 4,960,289 (GRCm39)	Y294H	possibly damaging	Het
Smyd1	A	G	6: 71,215,614 (GRCm39)	V115A	probably benign	Het
Trpm7	A	G	2: 126,649,207 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,787,347 (GRCm39)	N751S	probably damaging	Het
Upk1a	A	T	7: 30,303,204 (GRCm39)	M241K	possibly damaging	Het
Vmn2r71	A	C	7: 85,268,470 (GRCm39)	E224D	probably benign	Het
Vmn2r81	C	T	10: 79,106,564 (GRCm39)	T514I	probably damaging	Het
Zkscan16	T	C	4: 58,946,283 (GRCm39)	W53R	probably damaging	Het

Other mutations in Prpf38a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Prpf38a	APN	4	108,436,238 (GRCm39)	missense	possibly damaging	0.67
IGL02327:Prpf38a	APN	4	108,425,607 (GRCm39)	missense	unknown
IGL02407:Prpf38a	APN	4	108,424,836 (GRCm39)	missense	unknown
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

2015-12-18