Mutagenetix > Incidental Mutation

Incidental Mutation 'RF016:Wdr97'

603580

Institutional Source

Beutler Lab

Gene Symbol

Wdr97

Ensembl Gene

ENSMUSG00000109179

Gene Name

WD repeat domain 97

Synonyms

Gm35339

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

RF016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76238649-76249141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76240172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 331 (I331F)

Ref Sequence

ENSEMBL: ENSMUSP00000146420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160172] [ENSMUST00000160853] [ENSMUST00000160914] [ENSMUST00000161527] [ENSMUST00000208833]

AlphaFold

A0A140LHH9

Predicted Effect

probably benign
Transcript: ENSMUST00000023211

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552

Domain	Start	End	E-Value	Type
Pfam:Sharpin_PH	13	125	1.2e-44	PFAM
low complexity region	187	202	N/A	INTRINSIC
PDB:4DBG\|A	203	299	1e-17	PDB
SCOP:d1euvb_	212	301	2e-5	SMART
Blast:UBQ	218	299	2e-26	BLAST
ZnF_RBZ	343	367	9.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023212

SMART Domains

Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.8e-69	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160172

SMART Domains

Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.7e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160853

SMART Domains

Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	25	202	4.6e-67	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160914

SMART Domains

Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
Pfam:Maf1	84	202	4.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161527

SMART Domains

Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.8e-69	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTGGC	TGCTGTGGCGGCTGTGGC	1: 82,891,298 (GRCm39)		probably benign	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,447,950 (GRCm39)		probably null	Het
Amer3	A	G	1: 34,626,201 (GRCm39)	I147V	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGACGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankzf1	G	A	1: 75,172,477 (GRCm39)	R259H	probably damaging	Het
Apol9b	T	C	15: 77,619,714 (GRCm39)	V170A	probably benign	Het
Asb3	A	G	11: 31,011,407 (GRCm39)	I267M	possibly damaging	Het
Baz2a	A	G	10: 127,961,185 (GRCm39)	E1636G	probably benign	Het
Birc6	G	T	17: 74,996,319 (GRCm39)	V4513F	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Ccdc27	T	C	4: 154,120,567 (GRCm39)	R410G	probably benign	Het
Cdhr5	A	G	7: 140,852,097 (GRCm39)	V435A	possibly damaging	Het
Cercam	T	C	2: 29,759,317 (GRCm39)	S15P	unknown	Het
Cntrl	T	C	2: 35,009,998 (GRCm39)	V224A	probably benign	Het
Comtd1	T	A	14: 21,898,664 (GRCm39)	Q56L	probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,789 (GRCm39)		probably null	Het
Cyb5r4	AGGGA	AGGGATGGGACAGACCCACTGCCCCGGGA	9: 86,922,497 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGA	TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGACAGACACACTGACCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Cyld	T	A	8: 89,432,069 (GRCm39)	Y22*	probably null	Het
Dbt	T	C	3: 116,333,363 (GRCm39)	Y278H	probably damaging	Het
Ddb1	A	G	19: 10,605,222 (GRCm39)	H1070R	probably damaging	Het
Dek	G	T	13: 47,251,662 (GRCm39)	S248*	probably null	Het
Dixdc1	T	C	9: 50,604,941 (GRCm39)	T300A	probably benign	Het
Dusp8	A	T	7: 141,636,589 (GRCm39)	S334T	probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Ehbp1	T	C	11: 22,096,646 (GRCm39)	N306S	probably benign	Het
Fcer1a	T	C	1: 173,053,086 (GRCm39)	I37V	possibly damaging	Het
Fgfr2	G	T	7: 129,779,410 (GRCm39)	Q639K	probably benign	Het
Ftdc1	T	A	16: 58,437,230 (GRCm39)	N26I	probably damaging	Het
Gab3	CTT	CTTATT	X: 74,043,591 (GRCm39)		probably null	Het
Gins4	T	C	8: 23,722,626 (GRCm39)	M98V	probably benign	Het
Gm8369	GTGTGTGT	GTGTGTGTTTGTGTGT	19: 11,489,118 (GRCm39)		probably null	Het
Grik1	G	A	16: 87,831,074 (GRCm39)	S232L		Het
Gsg1l	A	G	7: 125,619,794 (GRCm39)		probably null	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
H2-DMb1	A	T	17: 34,376,360 (GRCm39)	S160C	probably damaging	Het
Hsdl2	GCAGCCACAGCTGCAG	GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG	4: 59,610,643 (GRCm39)		probably benign	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Jag1	T	A	2: 136,938,176 (GRCm39)	T275S	probably benign	Het
Klhdc2	T	A	12: 69,350,660 (GRCm39)	I158K	probably damaging	Het
Krtap28-10	TCCC	TCCCGCACCC	1: 83,019,844 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,339,549 (GRCm39)	M1121L	probably benign	Het
M6pr	C	T	6: 122,292,124 (GRCm39)	A152V	probably damaging	Het
Mapkapk5	T	C	5: 121,671,379 (GRCm39)	Y218C	probably damaging	Het
Mkrn1	C	T	6: 39,396,925 (GRCm39)	V26I		Het
Mro	CA	CAAACTCGGA	18: 74,003,035 (GRCm39)		probably null	Het
Mrpl3	T	C	9: 104,952,452 (GRCm39)	V303A	probably benign	Het
Nefh	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,022 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACT	TCACCTGGGGACTCGGCCCCACCTGGGGACT	11: 4,891,023 (GRCm39)		probably benign	Het
Nid2	GGCTAACACCGC	GGC	14: 19,801,431 (GRCm39)		probably benign	Het
Nusap1	CAAGCTGAGA	CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA	2: 119,458,082 (GRCm39)		probably benign	Het
Or10n7-ps1	A	ATAGG	9: 39,598,050 (GRCm39)		probably null	Het
Or6d12	G	T	6: 116,493,004 (GRCm39)	A89S	probably benign	Het
Ovol1	A	G	19: 5,603,640 (GRCm39)	V87A	probably benign	Het
Pdpk1	T	A	17: 24,312,255 (GRCm39)	E290D	probably benign	Het
Pkd1l3	T	A	8: 110,350,174 (GRCm39)	S340T	probably benign	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,820,905 (GRCm39)		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,551,602 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,273,869 (GRCm39)	M338V	probably benign	Het
Psg28	G	T	7: 18,156,847 (GRCm39)	L463I	probably damaging	Het
Ptprd	T	C	4: 76,046,892 (GRCm39)	D211G	probably benign	Het
Pus1	T	C	5: 110,924,424 (GRCm39)	H160R	not run	Het
Ranbp17	T	C	11: 33,279,511 (GRCm39)	T582A	probably damaging	Het
Rasa1	G	A	13: 85,371,607 (GRCm39)	T878I	possibly damaging	Het
Rbm20	A	G	19: 53,802,163 (GRCm39)	T224A	probably benign	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Sh3bp4	T	C	1: 89,072,744 (GRCm39)	S531P	probably benign	Het
Sh3pxd2b	TGCCTG	TGCCTGCGCCTG	11: 32,373,053 (GRCm39)		probably benign	Het
Snrnp200	T	C	2: 127,072,476 (GRCm39)	L1291P	probably damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,769,694 (GRCm39)	R54Q	probably benign	Het
Sulf2	A	T	2: 165,924,523 (GRCm39)	L521Q	probably benign	Het
Supv3l1	C	A	10: 62,273,287 (GRCm39)	V317F	possibly damaging	Het
Tcof1	TCC	TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC	18: 60,966,647 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,347 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,350 (GRCm39)		probably benign	Het
Usp38	A	G	8: 81,740,522 (GRCm39)	S182P	probably benign	Het
Vmn2r24	T	C	6: 123,781,174 (GRCm39)	V460A	probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		probably benign	Het

Other mutations in Wdr97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6006:Wdr97	UTSW	15	76,241,372 (GRCm39)	missense	probably damaging	1.00
R6258:Wdr97	UTSW	15	76,239,895 (GRCm39)	nonsense	probably null
R6464:Wdr97	UTSW	15	76,246,977 (GRCm39)	missense	probably benign	0.01
R6544:Wdr97	UTSW	15	76,242,478 (GRCm39)	missense	probably benign	0.00
R6545:Wdr97	UTSW	15	76,247,578 (GRCm39)	missense	probably damaging	1.00
R6554:Wdr97	UTSW	15	76,239,178 (GRCm39)	missense	possibly damaging	0.64
R6803:Wdr97	UTSW	15	76,240,776 (GRCm39)	missense	probably damaging	1.00
R6850:Wdr97	UTSW	15	76,241,996 (GRCm39)	missense	probably damaging	1.00
R7574:Wdr97	UTSW	15	76,241,949 (GRCm39)	nonsense	probably null
R7793:Wdr97	UTSW	15	76,243,307 (GRCm39)	missense
R7985:Wdr97	UTSW	15	76,245,687 (GRCm39)	missense
R8008:Wdr97	UTSW	15	76,244,832 (GRCm39)	missense
R8170:Wdr97	UTSW	15	76,247,819 (GRCm39)	missense
R8171:Wdr97	UTSW	15	76,247,819 (GRCm39)	missense
R8267:Wdr97	UTSW	15	76,240,794 (GRCm39)	missense
R8337:Wdr97	UTSW	15	76,245,684 (GRCm39)	missense
R8478:Wdr97	UTSW	15	76,247,629 (GRCm39)	splice site	probably null
R8735:Wdr97	UTSW	15	76,240,775 (GRCm39)	missense
R8958:Wdr97	UTSW	15	76,245,694 (GRCm39)	missense
R9385:Wdr97	UTSW	15	76,240,367 (GRCm39)	missense
R9440:Wdr97	UTSW	15	76,245,064 (GRCm39)	missense
R9657:Wdr97	UTSW	15	76,245,476 (GRCm39)	missense
R9672:Wdr97	UTSW	15	76,240,377 (GRCm39)	missense
R9778:Wdr97	UTSW	15	76,241,125 (GRCm39)	missense
RF004:Wdr97	UTSW	15	76,247,373 (GRCm39)	frame shift	probably null
RF009:Wdr97	UTSW	15	76,247,367 (GRCm39)	frame shift	probably null
RF030:Wdr97	UTSW	15	76,247,365 (GRCm39)	frame shift	probably null
Z1177:Wdr97	UTSW	15	76,247,330 (GRCm39)	missense
Z1177:Wdr97	UTSW	15	76,239,130 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCTGCATAAAACGTGAGGGG -3'
(R):5'- CTGTCATAGCTGTCACTGGAC -3'

Sequencing Primer
(F):5'- CTGCATAAAACGTGAGGGGATTCG -3'
(R):5'- ATAGCTGTCACTGGACCTGCAG -3'

Posted On

2019-12-04