Mutagenetix > Incidental Mutation

Incidental Mutation 'RF015:5430401F13Rik'

603471

Institutional Source

Beutler Lab

Gene Symbol

5430401F13Rik

Ensembl Gene

ENSMUSG00000094113

Gene Name

RIKEN cDNA 5430401F13 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

RF015 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

small insertion (9 aa in frame mutation)

DNA Base Change (assembly)

CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG to CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG at 131552856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075020] [ENSMUST00000161385]

AlphaFold

E9Q328

Predicted Effect

probably benign
Transcript: ENSMUST00000075020

SMART Domains

Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161385

SMART Domains

Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,050,748		probably benign	Het
Abcb4	GAA	G	5: 8,896,594		probably null	Het
Agap1	T	A	1: 89,634,263	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 123,286,862		probably benign	Het
Arid1a	AGGC	A	4: 133,752,831		probably benign	Het
Bco2	A	G	9: 50,545,997	F82L	probably damaging	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,141,256		probably benign	Het
Capn9	T	C	8: 124,618,482	F683L	probably benign	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 120,072,968		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,724,715		probably benign	Het
Chga	AGC	AGCGGC	12: 102,561,420		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 87,040,432		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 87,040,438		probably benign	Het
Dnah10	G	A	5: 124,818,077	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,910,124		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,910,129		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,756		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,475,917		probably benign	Het
Fam49a	T	A	12: 12,369,938	S294R	probably benign	Het
Fam71e1	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,500,522		probably null	Het
Gatad1	A	T	5: 3,647,523	C33S	possibly damaging	Het
Gm7534	T	C	4: 134,193,027	H609R	probably benign	Het
H2-DMb1	A	G	17: 34,155,502	Y42C	probably damaging	Het
Hars2	G	T	18: 36,785,945	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 93,018,148		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGCGCACATTG	6: 145,173,783		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,621,456		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,841		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,739,247		probably null	Het
Mucl2	T	A	15: 103,897,430	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Nup214	T	C	2: 32,034,706	V1749A	probably benign	Het
Olfr678	A	G	7: 105,070,048	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,721,802	N417Y	probably damaging	Het
Pclo	G	T	5: 14,515,269	L16F	unknown	Het
Pik3c2g	T	A	6: 139,754,771	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,368,542		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,858,489		probably benign	Het
Rnf41	C	T	10: 128,435,410	A63V	probably benign	Het
Sirt1	C	T	10: 63,337,016	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,621,370		probably benign	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Skor2	A	G	18: 76,860,788	E735G	probably damaging	Het
Slc26a8	TCTCTGGCTCTGGCTCTGGCTCTGGCTC	TCTCTGGCTCTGGCTCTGGCTC	17: 28,638,341		probably benign	Het
Smco2	T	TTCG	6: 146,852,663		probably benign	Het
Strada	A	G	11: 106,171,020	I172T	probably damaging	Het
Syne1	T	C	10: 5,302,248	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,833,584		probably benign	Het
Tram1	T	C	1: 13,579,742	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,979,658	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,089,109		probably benign	Het
Utp18	A	G	11: 93,885,461	L66P	probably damaging	Het
Wdr66	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,254,242		probably benign	Het
Wdr66	TCTCA	T	5: 123,274,161		probably benign	Het
Wnt7a	C	T	6: 91,394,423	E186K	possibly damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,036,481		probably benign	Het
Zgrf1	A	G	3: 127,563,233	I703V	probably benign	Het

Other mutations in 5430401F13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:5430401F13Rik	APN	6	131552592	missense	probably benign	0.14
R0866:5430401F13Rik	UTSW	6	131552779	missense	unknown
R1674:5430401F13Rik	UTSW	6	131552803	missense	unknown
R6374:5430401F13Rik	UTSW	6	131552929	missense	unknown
R6671:5430401F13Rik	UTSW	6	131551350	critical splice donor site	probably null
R7150:5430401F13Rik	UTSW	6	131552667	missense	probably benign	0.16
RF005:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
RF014:5430401F13Rik	UTSW	6	131552857	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552859	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552861	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552855	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552878	small insertion	probably benign
RF029:5430401F13Rik	UTSW	6	131552895	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552888	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552873	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552892	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552894	small insertion	probably benign
RF042:5430401F13Rik	UTSW	6	131552886	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552901	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552883	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
X0062:5430401F13Rik	UTSW	6	131552638	missense	probably benign	0.29
Z1177:5430401F13Rik	UTSW	6	131552721	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CAGCATGGTAAGGAAGCCATC -3'
(R):5'- GGGAATCACTGGAGACCATC -3'

Sequencing Primer
(F):5'- CATGGTAAGGAAGCCATCAAGTCC -3'
(R):5'- CACTGGAGACCATCTTTAGTAGG -3'

Posted On

2019-12-04