Mutagenetix > Incidental Mutation

Incidental Mutation 'RF039:Yipf3'

604731

Institutional Source

Beutler Lab

Gene Symbol

Yipf3

Ensembl Gene

ENSMUSG00000071074

Gene Name

Yip1 domain family, member 3

Synonyms

D17Wsu94e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

RF039 (G1)

Quality Score

139.457

Status

Not validated

Chromosome

Chromosomal Location

46559019-46563474 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

AGAGGA to AGA at 46559898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000124655] [ENSMUST00000142706] [ENSMUST00000173232] [ENSMUST00000173349]

AlphaFold

Q3UDR8

Predicted Effect

probably benign
Transcript: ENSMUST00000087026

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	339	4.53e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095263

SMART Domains

Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
low complexity region	59	75	N/A	INTRINSIC
transmembrane domain	146	168	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	212	234	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	272	294	N/A	INTRINSIC
low complexity region	320	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123311

SMART Domains

Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124655

SMART Domains

Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	1	253	2.14e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127378

SMART Domains

Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
Pfam:Yip1	30	178	4.6e-13	PFAM
low complexity region	189	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142706

SMART Domains

Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	255	9.13e-47	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173232

SMART Domains

Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L	61	100	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173349

SMART Domains

Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	42	170	2.3e-5	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,989,549 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,971 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cckbr	GCA	G	7: 105,083,893 (GRCm39)		probably null	Het
Cd276	G	A	9: 58,442,787 (GRCm39)	R223C	probably damaging	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cul9	CCT	CCTTCT	17: 46,811,780 (GRCm39)		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGTCTGC	4: 129,503,444 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eml6	CTAAAAAAACAAAACA	C	11: 29,702,551 (GRCm39)		probably benign	Het
Eps8	C	CTCAT	6: 137,494,068 (GRCm39)		probably null	Het
Exd2	CACAGCCA	C	12: 80,522,715 (GRCm39)		probably null	Het
Gab3	TTC	TTCGTC	X: 74,043,610 (GRCm39)		probably benign	Het
Gm10718	ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT	ATTTTCAGT	9: 3,024,385 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gm8369	GTG	GTGTTTTTG	19: 11,489,146 (GRCm39)		probably benign	Het
Igf1r	GG	GGTGATGGAGCTTG	7: 67,875,924 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGTTGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Kif12	GGC	GGCCTCCAACCGGCCAGC	4: 63,089,662 (GRCm39)		probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 75,184,989 (GRCm39)		probably benign	Het
Lypd8	ACCAATCACCAAC	ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC	11: 58,281,057 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,446 (GRCm39)		probably benign	Het
Map1a	CCAGC	CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC	2: 121,136,785 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Nalf2	CCG	CCGCCGGCG	X: 98,864,978 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,007 (GRCm39)		probably benign	Het
Or4k41	G	A	2: 111,279,896 (GRCm39)	G137D	not run	Het
Pdcd11	GGAGGAGA	G	19: 47,101,894 (GRCm39)		probably null	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTTAACATC	7: 16,695,369 (GRCm39)		probably benign	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,577,464 (GRCm39)		probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)		probably null	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,774 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC	15: 76,499,070 (GRCm39)		probably benign	Het
Slc39a4	TC	TCATCGTGATCACCATGGTCACCATGATCACTGTGGAC	15: 76,499,071 (GRCm39)		probably benign	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Spmap2l	GCGATCCTCCCCAGTCCCGCAAGGCCA	GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA	5: 77,164,249 (GRCm39)		probably benign	Het
Strn	TTACCCC	TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC	17: 78,984,707 (GRCm39)		probably null	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tent4a	GACA	G	13: 69,681,973 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,020 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 48,097,035 (GRCm39)		probably null	Het
Thbs1	TGACCTTAG	TG	2: 117,953,346 (GRCm39)		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,239,762 (GRCm39)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGG	CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG	15: 78,851,236 (GRCm39)		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,851,239 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,280,628 (GRCm39)	R73Q	possibly damaging	Het
Zc3h4	TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	7: 16,163,543 (GRCm39)		probably benign	Het

Other mutations in Yipf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Yipf3	APN	17	46,561,383 (GRCm39)	critical splice donor site	probably null
IGL02469:Yipf3	APN	17	46,561,384 (GRCm39)	critical splice donor site	probably null
IGL02836:Yipf3	APN	17	46,562,520 (GRCm39)	missense	possibly damaging	0.63
R0077:Yipf3	UTSW	17	46,562,503 (GRCm39)	missense	probably benign	0.42
R0334:Yipf3	UTSW	17	46,559,238 (GRCm39)	missense	possibly damaging	0.93
R0398:Yipf3	UTSW	17	46,562,411 (GRCm39)	missense	possibly damaging	0.86
R1163:Yipf3	UTSW	17	46,562,155 (GRCm39)	critical splice donor site	probably null
R1398:Yipf3	UTSW	17	46,562,372 (GRCm39)	missense	probably damaging	1.00
R1556:Yipf3	UTSW	17	46,561,793 (GRCm39)	missense	probably damaging	1.00
R1588:Yipf3	UTSW	17	46,561,787 (GRCm39)	missense	possibly damaging	0.96
R7238:Yipf3	UTSW	17	46,562,585 (GRCm39)	missense	probably benign
R7347:Yipf3	UTSW	17	46,561,753 (GRCm39)	missense	probably damaging	0.99
R7355:Yipf3	UTSW	17	46,561,566 (GRCm39)	missense	probably damaging	0.97
R7366:Yipf3	UTSW	17	46,559,855 (GRCm39)	missense	possibly damaging	0.93
R7840:Yipf3	UTSW	17	46,561,790 (GRCm39)	missense	probably benign	0.28
R9124:Yipf3	UTSW	17	46,559,895 (GRCm39)	missense	probably benign
R9223:Yipf3	UTSW	17	46,559,798 (GRCm39)	missense	probably damaging	1.00
RF026:Yipf3	UTSW	17	46,559,898 (GRCm39)	unclassified	probably benign
RF035:Yipf3	UTSW	17	46,559,898 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCAAGTTGTCAGCTGAGC -3'
(R):5'- TGATGAGACTCTTGGCTCTAGATTG -3'

Sequencing Primer
(F):5'- TTGTCAGCTGAGCGGAGAAC -3'
(R):5'- TACCTGATCTGCTACCTG -3'

Posted On

2019-12-04