Mutagenetix > Incidental Mutation

Incidental Mutation 'R8127:1700018F24Rik'

631810

Institutional Source

Beutler Lab

Gene Symbol

1700018F24Rik

Ensembl Gene

ENSMUSG00000029620

Gene Name

RIKEN cDNA 1700018F24 gene

Synonyms

MMRRC Submission

067556-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144979800-144982491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144980249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 66 (M66T)

Ref Sequence

ENSEMBL: ENSMUSP00000031624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031624] [ENSMUST00000151196]

AlphaFold

B2RW27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031624
AA Change: M66T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031624
Gene: ENSMUSG00000029620
AA Change: M66T

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	62	153	2.9e-10	PFAM
low complexity region	166	186	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
low complexity region	260	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151196

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	A	T	2: 58,367,638 (GRCm39)	N174K	probably benign	Het
Ago1	A	T	4: 126,348,214 (GRCm39)	C342S	possibly damaging	Het
Anapc1	A	G	2: 128,474,547 (GRCm39)	S1423P	probably damaging	Het
Antxr2	A	T	5: 98,127,876 (GRCm39)	C218*	probably null	Het
Arsa	A	G	15: 89,359,067 (GRCm39)	Y200H	probably damaging	Het
Atad3a	C	T	4: 155,838,396 (GRCm39)	R207Q	probably damaging	Het
Carmil3	A	G	14: 55,735,701 (GRCm39)	D551G	probably damaging	Het
Cdk9	A	G	2: 32,598,009 (GRCm39)	I349T	probably benign	Het
Cmya5	A	T	13: 93,231,122 (GRCm39)	V1322E	probably damaging	Het
Col4a3	T	A	1: 82,627,481 (GRCm39)	I95K	unknown	Het
Dab2ip	T	C	2: 35,534,138 (GRCm39)		probably benign	Het
Dnaaf6rt	T	C	1: 31,262,201 (GRCm39)	F61S	probably benign	Het
Dok7	A	G	5: 35,244,345 (GRCm39)	S530G	probably benign	Het
Dst	C	T	1: 34,217,310 (GRCm39)	T1250M	probably damaging	Het
Dzank1	A	C	2: 144,330,736 (GRCm39)	W439G	probably damaging	Het
Evx1	T	A	6: 52,290,902 (GRCm39)	S25T	possibly damaging	Het
Fut10	G	A	8: 31,684,999 (GRCm39)		probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Hyal5	C	A	6: 24,891,487 (GRCm39)	R434S	probably benign	Het
Lrrc43	C	T	5: 123,630,334 (GRCm39)	P66S	probably damaging	Het
Mib1	T	A	18: 10,741,031 (GRCm39)	I93N	probably damaging	Het
Mug2	G	A	6: 122,052,567 (GRCm39)	E1038K	probably benign	Het
Nsd2	T	A	5: 34,042,834 (GRCm39)	C1033S	probably damaging	Het
Or6k4	C	T	1: 173,965,155 (GRCm39)	P282S	probably damaging	Het
Or8d4	T	A	9: 40,038,360 (GRCm39)	H299L	probably benign	Het
Otogl	A	T	10: 107,731,613 (GRCm39)	F176Y	probably damaging	Het
Polr3b	A	G	10: 84,515,653 (GRCm39)	K609E	probably benign	Het
Prdm15	T	C	16: 97,638,910 (GRCm39)	N50S	probably benign	Het
Rlf	G	T	4: 121,005,093 (GRCm39)	Q1406K	possibly damaging	Het
Rusc2	T	C	4: 43,423,747 (GRCm39)	V1023A	possibly damaging	Het
Scn11a	C	T	9: 119,633,578 (GRCm39)	G385D	probably damaging	Het
Slc44a1	T	C	4: 53,528,714 (GRCm39)	S155P	probably benign	Het
Spam1	T	A	6: 24,796,970 (GRCm39)	V307D	possibly damaging	Het
Srgap1	A	C	10: 121,691,271 (GRCm39)	M321R	probably null	Het
Stam	A	G	2: 14,122,284 (GRCm39)	I128V	probably damaging	Het
Sytl2	A	G	7: 90,024,798 (GRCm39)	D262G	possibly damaging	Het
Taf2	G	A	15: 54,923,384 (GRCm39)	R298C	probably damaging	Het
Tcl1b5	A	T	12: 105,146,262 (GRCm39)	T112S	probably benign	Het
Trim33	T	C	3: 103,239,043 (GRCm39)	S674P	possibly damaging	Het
Trip12	T	C	1: 84,716,463 (GRCm39)	N1602S	probably damaging	Het
Vmn1r44	T	C	6: 89,870,845 (GRCm39)	I197T	probably benign	Het
Wdtc1	C	T	4: 133,029,693 (GRCm39)		probably null	Het
Zfp583	G	T	7: 6,326,821 (GRCm39)		probably null	Het
Zfyve16	T	A	13: 92,642,185 (GRCm39)	I1213F	probably damaging	Het

Other mutations in 1700018F24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:1700018F24Rik	APN	5	144,979,957 (GRCm39)	missense	possibly damaging	0.83
IGL01751:1700018F24Rik	APN	5	144,979,981 (GRCm39)	splice site	probably null
IGL02928:1700018F24Rik	APN	5	144,980,327 (GRCm39)	missense	probably damaging	1.00
IGL03324:1700018F24Rik	APN	5	144,982,261 (GRCm39)	missense	probably benign	0.01
PIT4486001:1700018F24Rik	UTSW	5	144,980,914 (GRCm39)	missense	probably damaging	1.00
R0359:1700018F24Rik	UTSW	5	144,982,181 (GRCm39)	nonsense	probably null
R0554:1700018F24Rik	UTSW	5	144,982,181 (GRCm39)	nonsense	probably null
R0724:1700018F24Rik	UTSW	5	144,981,573 (GRCm39)	missense	probably benign	0.10
R1774:1700018F24Rik	UTSW	5	144,982,351 (GRCm39)	missense	probably damaging	0.99
R2041:1700018F24Rik	UTSW	5	144,982,211 (GRCm39)	missense	probably damaging	0.99
R4625:1700018F24Rik	UTSW	5	144,981,693 (GRCm39)	missense	possibly damaging	0.95
R5043:1700018F24Rik	UTSW	5	144,980,910 (GRCm39)	nonsense	probably null
R5610:1700018F24Rik	UTSW	5	144,982,156 (GRCm39)	missense	possibly damaging	0.92
R5712:1700018F24Rik	UTSW	5	144,981,563 (GRCm39)	missense	probably benign	0.32
R6163:1700018F24Rik	UTSW	5	144,982,098 (GRCm39)	nonsense	probably null
R6799:1700018F24Rik	UTSW	5	144,981,624 (GRCm39)	missense	probably damaging	1.00
R7174:1700018F24Rik	UTSW	5	144,981,627 (GRCm39)	missense	probably benign	0.27
R8688:1700018F24Rik	UTSW	5	144,982,183 (GRCm39)	missense	probably damaging	0.98
R8975:1700018F24Rik	UTSW	5	144,980,192 (GRCm39)	missense	probably damaging	0.97
R9289:1700018F24Rik	UTSW	5	144,982,333 (GRCm39)	missense	probably benign	0.00
R9473:1700018F24Rik	UTSW	5	144,980,912 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGACACTCTGAGGAGCATTCC -3'
(R):5'- GGACCATCACTGTCAAGGTC -3'

Sequencing Primer
(F):5'- CTGATGCTTACTTAGGCCTCTGTG -3'
(R):5'- TTCTATGGGAGCACAGAGTCC -3'

Posted On

2020-06-30