Mutagenetix > Incidental Mutation

Incidental Mutation 'R8210:Prpf38b'

652095

Institutional Source

Beutler Lab

Gene Symbol

Prpf38b

Ensembl Gene

ENSMUSG00000027881

Gene Name

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

Synonyms

1110021E09Rik

MMRRC Submission

067633-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108810121-108819043 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 108815148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029480] [ENSMUST00000129273] [ENSMUST00000199735]

AlphaFold

Q80SY5

Predicted Effect

silent
Transcript: ENSMUST00000029480

SMART Domains

Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881

Domain	Start	End	E-Value	Type
low complexity region	13	35	N/A	INTRINSIC
Pfam:PRP38	48	232	5.4e-59	PFAM
low complexity region	240	253	N/A	INTRINSIC
low complexity region	257	291	N/A	INTRINSIC
coiled coil region	293	322	N/A	INTRINSIC
low complexity region	400	439	N/A	INTRINSIC
low complexity region	443	457	N/A	INTRINSIC
low complexity region	467	478	N/A	INTRINSIC
low complexity region	480	506	N/A	INTRINSIC
low complexity region	510	534	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129273

SMART Domains

Protein: ENSMUSP00000143724
Gene: ENSMUSG00000027881

Domain	Start	End	E-Value	Type
low complexity region	13	35	N/A	INTRINSIC
Pfam:PRP38	48	93	2.7e-12	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000199735
AA Change: Y176N

SMART Domains

Protein: ENSMUSP00000142929
Gene: ENSMUSG00000027881
AA Change: Y176N

Domain	Start	End	E-Value	Type
low complexity region	13	35	N/A	INTRINSIC
Pfam:PRP38	43	150	2e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	G	A	9: 54,517,083 (GRCm39)	P577S	probably damaging	Het
Adal	T	C	2: 120,985,236 (GRCm39)	V269A	possibly damaging	Het
Adam33	T	C	2: 130,898,250 (GRCm39)	T155A	probably benign	Het
Adgre1	A	T	17: 57,752,061 (GRCm39)	E603V	possibly damaging	Het
Adgrf4	T	C	17: 42,978,441 (GRCm39)	T301A	probably damaging	Het
Agtpbp1	G	T	13: 59,630,385 (GRCm39)	A782E	possibly damaging	Het
Ank3	A	T	10: 69,811,925 (GRCm39)	K1197N	possibly damaging	Het
Anxa9	A	T	3: 95,213,207 (GRCm39)	D46E	probably damaging	Het
Atg9a	T	C	1: 75,161,927 (GRCm39)	T540A	probably damaging	Het
Atg9a	A	G	1: 75,163,009 (GRCm39)	Y364H	probably damaging	Het
Bltp1	A	C	3: 37,067,030 (GRCm39)	E73A		Het
Cd300c2	C	T	11: 114,891,634 (GRCm39)	G80D	possibly damaging	Het
Cebpz	T	C	17: 79,230,685 (GRCm39)	E844G	probably benign	Het
Celsr1	T	C	15: 85,863,436 (GRCm39)	I1199V	probably benign	Het
Cftr	A	G	6: 18,220,696 (GRCm39)	N189S	probably damaging	Het
Dhrs13	G	T	11: 77,924,302 (GRCm39)	R116I	unknown	Het
Dnah10	A	G	5: 124,827,858 (GRCm39)	M735V	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E130208F15Rik	C	A	7: 30,021,619 (GRCm39)	S93*	probably null	Het
E330034G19Rik	T	C	14: 24,346,104 (GRCm39)	I92T		Het
Eef1d	A	T	15: 75,768,309 (GRCm39)	V511D	probably damaging	Het
Efna1	T	G	3: 89,183,520 (GRCm39)	E102A	probably damaging	Het
H2-M11	C	A	17: 36,858,860 (GRCm39)	F133L	probably damaging	Het
Htr3b	G	T	9: 48,847,343 (GRCm39)		probably null	Het
Kcns3	A	G	12: 11,142,253 (GRCm39)	S149P	probably damaging	Het
Lhx4	T	A	1: 155,586,214 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,412,354 (GRCm39)	V1317M	probably damaging	Het
Mphosph9	A	G	5: 124,405,174 (GRCm39)	I799T	probably damaging	Het
Muc1	C	T	3: 89,138,906 (GRCm39)	A505V	probably damaging	Het
Muc6	C	A	7: 141,235,673 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,820,721 (GRCm39)	D1891G	probably damaging	Het
Nfe2l3	A	T	6: 51,428,065 (GRCm39)	H209L	probably benign	Het
Nprl2	A	C	9: 107,421,947 (GRCm39)	Y241S	probably damaging	Het
Oprm1	A	T	10: 6,780,442 (GRCm39)	Q368L	probably benign	Het
Or4g7	T	A	2: 111,309,753 (GRCm39)	M208K	possibly damaging	Het
Pcm1	C	T	8: 41,766,974 (GRCm39)	R1593C	probably damaging	Het
Pitpnm1	T	C	19: 4,162,878 (GRCm39)		probably null	Het
Pnoc	A	G	14: 65,642,521 (GRCm39)	S81P	probably benign	Het
Prkg2	T	A	5: 99,114,393 (GRCm39)	D585V	probably damaging	Het
Ranbp3l	G	T	15: 9,065,059 (GRCm39)	S482I	probably benign	Het
Rapgef4	T	C	2: 72,056,364 (GRCm39)	F651L	probably benign	Het
Rasgrf1	A	G	9: 89,793,675 (GRCm39)	T151A	unknown	Het
Rnf215	T	C	11: 4,085,544 (GRCm39)	L91P	possibly damaging	Het
Rph3a	T	C	5: 121,099,312 (GRCm39)	H193R	probably benign	Het
Rps17	C	T	7: 80,994,750 (GRCm39)	V4I	probably benign	Het
Sec61a2	A	T	2: 5,881,728 (GRCm39)	F234Y	possibly damaging	Het
Serpinb8	T	C	1: 107,526,736 (GRCm39)	L92P	probably damaging	Het
Slc1a6	A	T	10: 78,632,091 (GRCm39)	I306F	possibly damaging	Het
Slc26a11	T	C	11: 119,270,692 (GRCm39)	V538A	possibly damaging	Het
Slc27a1	G	A	8: 72,032,566 (GRCm39)	S193N	probably benign	Het
Slc9b1	T	C	3: 135,097,948 (GRCm39)	S393P	probably damaging	Het
Slfn3	T	A	11: 83,105,332 (GRCm39)	I320K	possibly damaging	Het
Spata31f1a	T	A	4: 42,848,542 (GRCm39)	M1205L	probably benign	Het
Tgfbr1	A	T	4: 47,406,924 (GRCm39)	I420F	probably benign	Het
Tnik	A	T	3: 28,658,482 (GRCm39)	D589V	possibly damaging	Het
Trappc8	A	C	18: 21,006,938 (GRCm39)		probably null	Het
Ttbk1	A	G	17: 46,791,087 (GRCm39)	S66P	possibly damaging	Het
Unc13c	A	G	9: 73,392,220 (GRCm39)	V2044A	probably benign	Het
Usp53	T	C	3: 122,741,045 (GRCm39)	E735G	probably benign	Het
Vmn2r-ps158	T	A	7: 42,673,462 (GRCm39)	N180K	probably benign	Het
Zfyve26	A	T	12: 79,302,037 (GRCm39)	V1853D	probably damaging	Het
Zkscan17	A	G	11: 59,394,574 (GRCm39)	V9A	probably damaging	Het

Other mutations in Prpf38b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01944:Prpf38b	APN	3	108,811,991 (GRCm39)	missense	probably benign	0.23
IGL03145:Prpf38b	APN	3	108,811,261 (GRCm39)	utr 3 prime	probably benign
IGL03269:Prpf38b	APN	3	108,812,557 (GRCm39)	missense	probably benign	0.23
R0482:Prpf38b	UTSW	3	108,812,586 (GRCm39)	missense	probably damaging	1.00
R0765:Prpf38b	UTSW	3	108,818,734 (GRCm39)	missense	possibly damaging	0.53
R3724:Prpf38b	UTSW	3	108,811,656 (GRCm39)	utr 3 prime	probably benign
R3934:Prpf38b	UTSW	3	108,811,741 (GRCm39)	utr 3 prime	probably benign
R4367:Prpf38b	UTSW	3	108,818,487 (GRCm39)	missense	probably damaging	1.00
R4649:Prpf38b	UTSW	3	108,811,408 (GRCm39)	utr 3 prime	probably benign
R4651:Prpf38b	UTSW	3	108,811,408 (GRCm39)	utr 3 prime	probably benign
R4653:Prpf38b	UTSW	3	108,811,408 (GRCm39)	utr 3 prime	probably benign
R5073:Prpf38b	UTSW	3	108,818,484 (GRCm39)	missense	probably damaging	1.00
R6795:Prpf38b	UTSW	3	108,811,980 (GRCm39)	utr 3 prime	probably benign
R6979:Prpf38b	UTSW	3	108,818,640 (GRCm39)	missense	probably benign	0.01
R7500:Prpf38b	UTSW	3	108,812,446 (GRCm39)	missense	probably benign	0.33
R8045:Prpf38b	UTSW	3	108,811,350 (GRCm39)	missense	unknown
R9087:Prpf38b	UTSW	3	108,811,657 (GRCm39)	missense	unknown
R9514:Prpf38b	UTSW	3	108,818,619 (GRCm39)	missense	probably benign	0.02
R9667:Prpf38b	UTSW	3	108,818,859 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAGGAGCTAGGATCAACACAATAC -3'
(R):5'- TCGAAAGCAAGTGATGGGTC -3'

Sequencing Primer
(F):5'- ACACAATACAGAGTTAATTTGGGAG -3'
(R):5'- GTGATGGGTCTCATAACACATACAG -3'

Posted On

2020-10-14