Mutagenetix > Incidental Mutation

Incidental Mutation 'RF022:1700001K19Rik'

603956

Institutional Source

Beutler Lab

Gene Symbol

1700001K19Rik

Ensembl Gene

ENSMUSG00000056508

Gene Name

RIKEN cDNA 1700001K19 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

RF022 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

110634122-110649053 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

GTACT to GTACTACT at 110634877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018851] [ENSMUST00000070659] [ENSMUST00000222915]

AlphaFold

Q80ZT1

Predicted Effect

probably benign
Transcript: ENSMUST00000018851

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
Pfam:DHC_N1	237	830	1.9e-145	PFAM
coiled coil region	1171	1198	N/A	INTRINSIC
Pfam:DHC_N2	1317	1721	3.3e-116	PFAM
AAA	1899	2043	5.39e-2	SMART
low complexity region	2102	2116	N/A	INTRINSIC
AAA	2214	2365	2.13e0	SMART
low complexity region	2394	2405	N/A	INTRINSIC
AAA	2585	2735	8.6e-7	SMART
Blast:AAA	2777	2811	2e-13	BLAST
AAA	2927	3093	4.79e-5	SMART
Pfam:MT	3197	3534	1.1e-44	PFAM
Pfam:AAA_9	3554	3778	8.5e-75	PFAM
Pfam:Dynein_heavy	3919	4642	4.3e-163	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000070659

SMART Domains

Protein: ENSMUSP00000068238
Gene: ENSMUSG00000056508

Domain	Start	End	E-Value	Type
low complexity region	196	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222915

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,455,289 (GRCm39)	E702V	possibly damaging	Het
Arpc3	A	G	5: 122,538,489 (GRCm39)	T7A	probably benign	Het
Bcl3	G	A	7: 19,542,966 (GRCm39)	P393L	probably damaging	Het
Ceacam9	A	G	7: 16,459,304 (GRCm39)	D201G	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,527,679 (GRCm39)		probably benign	Het
Clgn	A	G	8: 84,152,235 (GRCm39)	K579R	probably damaging	Het
Cntnap2	C	T	6: 46,998,599 (GRCm39)	R884W	probably damaging	Het
Col6a4	A	T	9: 105,954,207 (GRCm39)	D377E	probably damaging	Het
Cort	GCCCACTCGT	G	4: 149,209,869 (GRCm39)		probably benign	Het
D5Ertd579e	A	C	5: 36,772,006 (GRCm39)	I796M	probably damaging	Het
Dmkn	GGTGGAAGTGGTGGAAG	GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG	7: 30,466,600 (GRCm39)		probably benign	Het
Dpagt1	G	T	9: 44,243,262 (GRCm39)	V266L	possibly damaging	Het
Ebf3	C	A	7: 136,915,671 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Flywch1	CACTCCTGGTGT	CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT	17: 23,981,141 (GRCm39)		probably null	Het
Gab3	CTT	CTTATT	X: 74,043,600 (GRCm39)		probably null	Het
Golga4	A	G	9: 118,387,057 (GRCm39)	D1393G	probably damaging	Het
Gpc5	G	A	14: 115,789,688 (GRCm39)	V521I	probably damaging	Het
Grik1	A	T	16: 87,693,225 (GRCm39)	N859K		Het
Insrr	G	A	3: 87,711,792 (GRCm39)	A511T	possibly damaging	Het
Isx	A	G	8: 75,600,474 (GRCm39)	D69G	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lkaaear1	CAGCTCCAG	CAGCTCCAGGTCGAGCTCCAG	2: 181,339,370 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,029,841 (GRCm39)	E915G	unknown	Het
Maml3	A	G	3: 51,764,083 (GRCm39)	S294P	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mef2d	A	T	3: 88,075,574 (GRCm39)	T486S	probably benign	Het
Ms4a8a	A	G	19: 11,053,689 (GRCm39)	V139A	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z8	T	G	8: 72,812,468 (GRCm39)	*315G	probably null	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,006,678 (GRCm39)		probably null	Het
Pnma8a	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,695,352 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,296,817 (GRCm39)	L177P	probably damaging	Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Ptprh	A	G	7: 4,552,367 (GRCm39)	F966L	probably benign	Het
Rad17	A	G	13: 100,773,593 (GRCm39)	L132S	probably damaging	Het
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rwdd2b	C	T	16: 87,233,558 (GRCm39)	A181T	probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTTCCTGT	11: 32,373,054 (GRCm39)		probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Sla	C	T	15: 66,654,593 (GRCm39)	G231D	probably benign	Het
Tcof1	CAG	CAGTAG	18: 60,968,807 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tgm5	T	A	2: 120,902,092 (GRCm39)	E192D	probably damaging	Het
Tmem123	A	G	9: 7,791,414 (GRCm39)	Y171C	probably damaging	Het
Tnrc18	G	A	5: 142,759,385 (GRCm39)	A999V		Het
Triobp	C	T	15: 78,858,482 (GRCm39)	P1361L	probably benign	Het
Ubac1	A	T	2: 25,895,470 (GRCm39)	W328R	probably damaging	Het
Ube2q1	A	G	3: 89,688,200 (GRCm39)	N324S	probably benign	Het
Zcchc2	T	C	1: 105,939,472 (GRCm39)	I407T	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het

Other mutations in 1700001K19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:1700001K19Rik	UTSW	12	110,634,884 (GRCm39)	unclassified	probably benign
FR4304:1700001K19Rik	UTSW	12	110,634,883 (GRCm39)	unclassified	probably benign
FR4548:1700001K19Rik	UTSW	12	110,634,886 (GRCm39)	unclassified	probably benign
FR4548:1700001K19Rik	UTSW	12	110,634,883 (GRCm39)	unclassified	probably benign
FR4737:1700001K19Rik	UTSW	12	110,634,882 (GRCm39)	unclassified	probably benign
FR4976:1700001K19Rik	UTSW	12	110,634,884 (GRCm39)	unclassified	probably benign
FR4976:1700001K19Rik	UTSW	12	110,634,881 (GRCm39)	unclassified	probably benign
R0266:1700001K19Rik	UTSW	12	110,635,188 (GRCm39)	missense	possibly damaging	0.59
R1345:1700001K19Rik	UTSW	12	110,635,152 (GRCm39)	missense	probably damaging	1.00
R1859:1700001K19Rik	UTSW	12	110,637,268 (GRCm39)	start gained	probably benign
R7020:1700001K19Rik	UTSW	12	110,634,975 (GRCm39)	missense	probably damaging	1.00
R7225:1700001K19Rik	UTSW	12	110,637,299 (GRCm39)	splice site	probably benign
R7311:1700001K19Rik	UTSW	12	110,635,184 (GRCm39)	missense	probably benign
R8410:1700001K19Rik	UTSW	12	110,635,145 (GRCm39)	missense	probably benign	0.21
R9001:1700001K19Rik	UTSW	12	110,637,176 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAAGATCCTGAGGTTTGGGG -3'
(R):5'- CCTGTGGAGACCCAAGAGATAG -3'

Sequencing Primer
(F):5'- CTAAGGATTGAACTCCGGTCATCAG -3'
(R):5'- CCCAAGAGATAGGCAGACAGCTG -3'

Posted On

2019-12-04