Mutagenetix > Incidental Mutation

Incidental Mutation 'R1523:1700020L24Rik'

167655

Institutional Source

Beutler Lab

Gene Symbol

1700020L24Rik

Ensembl Gene

ENSMUSG00000035085

Gene Name

RIKEN cDNA 1700020L24 gene

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.652) question?

Stock #

R1523 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

83328520-83332058 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 83331232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 48 (E48*)

Ref Sequence

ENSEMBL: ENSMUSP00000140664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021020] [ENSMUST00000037378] [ENSMUST00000103209] [ENSMUST00000108137] [ENSMUST00000119346] [ENSMUST00000188702]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021020

SMART Domains

Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	1e-11	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	361	7.46e0	SMART
HX	363	406	1.64e-1	SMART
HX	408	454	1.78e-2	SMART
HX	456	500	5.79e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000037378
AA Change: E45*

SMART Domains

Protein: ENSMUSP00000042098
Gene: ENSMUSG00000035085
AA Change: E45*

Domain	Start	End	E-Value	Type
Pfam:DUF4637	5	169	1.3e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103209

SMART Domains

Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	9.7e-12	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	349	392	1.64e-1	SMART
HX	394	440	1.78e-2	SMART
HX	442	486	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108137

SMART Domains

Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	2.6e-11	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	371	2.72e-7	SMART
HX	373	416	1.64e-1	SMART
HX	418	464	1.78e-2	SMART
HX	466	510	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119346

SMART Domains

Protein: ENSMUSP00000112566
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	7.4e-12	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	371	2.72e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188702
AA Change: E48*

SMART Domains

Protein: ENSMUSP00000140664
Gene: ENSMUSG00000035085
AA Change: E48*

Domain	Start	End	E-Value	Type
Pfam:DUF4637	6	111	2.8e-48	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,356,864 (GRCm39)	S15P	probably damaging	Het
5530400C23Rik	A	G	6: 133,271,256 (GRCm39)	E100G	possibly damaging	Het
Abcg2	T	C	6: 58,662,679 (GRCm39)	F507S	possibly damaging	Het
Adgrf5	A	T	17: 43,761,044 (GRCm39)	Q913L	probably benign	Het
Ak7	A	T	12: 105,732,867 (GRCm39)	N537I	probably benign	Het
Anks1	T	A	17: 28,270,629 (GRCm39)		probably null	Het
Arhgap32	T	A	9: 32,168,048 (GRCm39)	V677D	probably damaging	Het
Ark2c	G	A	18: 77,550,634 (GRCm39)	T98I	probably benign	Het
Arnt	C	T	3: 95,396,965 (GRCm39)	P466L	possibly damaging	Het
Arrb1	T	G	7: 99,243,872 (GRCm39)	L274R	probably damaging	Het
Atf2	A	T	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Baz2b	C	T	2: 59,798,981 (GRCm39)	R381Q	possibly damaging	Het
Cacna1g	C	T	11: 94,333,555 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,064,501 (GRCm39)	R343Q	probably damaging	Het
Clca3a2	G	T	3: 144,777,405 (GRCm39)	S822*	probably null	Het
Col12a1	A	T	9: 79,568,278 (GRCm39)	Y1649N	probably benign	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Cp	T	C	3: 20,043,229 (GRCm39)	Y1006H	probably benign	Het
Ctbs	A	G	3: 146,160,735 (GRCm39)	T101A	probably benign	Het
Cyp4a31	T	C	4: 115,426,951 (GRCm39)	F170L	probably benign	Het
Dock1	A	C	7: 134,345,976 (GRCm39)	I173L	possibly damaging	Het
Dock4	A	G	12: 40,743,024 (GRCm39)	D393G	possibly damaging	Het
Dsg1a	T	A	18: 20,455,374 (GRCm39)	S113T	probably damaging	Het
Epha3	T	C	16: 63,431,311 (GRCm39)	D530G	probably damaging	Het
Erbb4	T	A	1: 68,435,411 (GRCm39)	H162L	possibly damaging	Het
Fam131c	C	T	4: 141,110,142 (GRCm39)	T180I	probably benign	Het
Fndc1	A	G	17: 7,992,041 (GRCm39)	S552P	unknown	Het
Foxf1	A	G	8: 121,811,297 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,828 (GRCm39)	T560A	possibly damaging	Het
Gabra4	G	A	5: 71,790,975 (GRCm39)	T289M	probably damaging	Het
Gcnt1	A	G	19: 17,307,197 (GRCm39)	V176A	probably damaging	Het
Gemin8	G	A	X: 164,963,644 (GRCm39)	S100N	probably benign	Het
Gm1527	T	C	3: 28,974,567 (GRCm39)	I460T	probably damaging	Het
Gm6729	A	G	10: 86,376,039 (GRCm39)		noncoding transcript	Het
Gprin2	T	C	14: 33,917,036 (GRCm39)	S245G	probably benign	Het
Gsdmc	A	T	15: 63,675,479 (GRCm39)	I112N	probably damaging	Het
Hspb6	A	G	7: 30,252,848 (GRCm39)	D30G	probably benign	Het
Hydin	A	G	8: 111,259,903 (GRCm39)	D2625G	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf2	T	A	8: 47,290,875 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,926,226 (GRCm39)		probably null	Het
Khdc3	G	A	9: 73,010,773 (GRCm39)	E208K	possibly damaging	Het
Kifc1	A	T	17: 34,102,636 (GRCm39)	S263T	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Magec2	T	A	X: 61,334,512 (GRCm39)	D177E	probably benign	Het
Mapkapk3	A	T	9: 107,140,822 (GRCm39)		probably null	Het
Mertk	T	C	2: 128,632,248 (GRCm39)		probably null	Het
Metrn	A	G	17: 26,013,951 (GRCm39)	*292R	probably null	Het
Mllt6	G	T	11: 97,555,849 (GRCm39)	A60S	probably damaging	Het
Mmp21	T	C	7: 133,280,774 (GRCm39)	I65M	probably benign	Het
Myo7b	A	G	18: 32,099,929 (GRCm39)	L1651P	probably damaging	Het
Nhsl1	A	G	10: 18,284,103 (GRCm39)	S15G	probably benign	Het
Nos1ap	T	C	1: 170,165,687 (GRCm39)	D192G	probably benign	Het
Nrcam	A	G	12: 44,619,032 (GRCm39)	T844A	probably damaging	Het
Pax4	A	G	6: 28,444,840 (GRCm39)	L203P	probably damaging	Het
Pbld2	T	C	10: 62,912,212 (GRCm39)	I280T	probably benign	Het
Pclo	A	G	5: 14,838,420 (GRCm39)	Y4681C	unknown	Het
Phyhip	T	A	14: 70,699,200 (GRCm39)	M1K	probably null	Het
Plppr4	T	C	3: 117,116,490 (GRCm39)	N456D	probably damaging	Het
Prpf31	T	C	7: 3,643,856 (GRCm39)	Y473H	probably damaging	Het
Rapgef2	A	T	3: 79,000,056 (GRCm39)	V564D	probably damaging	Het
Rexo1	T	C	10: 80,378,585 (GRCm39)	S1123G	probably benign	Het
Rnasel	C	A	1: 153,631,759 (GRCm39)	Q513K	probably damaging	Het
Rnf213	T	C	11: 119,332,714 (GRCm39)	V2641A	probably damaging	Het
Rnf40	G	T	7: 127,189,787 (GRCm39)	R184L	probably damaging	Het
Rnf8	A	G	17: 29,845,946 (GRCm39)	K179R	probably damaging	Het
Sipa1l2	C	T	8: 126,174,352 (GRCm39)	D1309N	possibly damaging	Het
Slc25a38	T	A	9: 119,952,769 (GRCm39)	M307K	possibly damaging	Het
Snx33	T	C	9: 56,833,466 (GRCm39)	D201G	possibly damaging	Het
Sulf1	T	A	1: 12,887,574 (GRCm39)	Y249*	probably null	Het
Sult2a4	G	A	7: 13,643,785 (GRCm39)	Q261*	probably null	Het
Syndig1	G	A	2: 149,845,154 (GRCm39)	A226T	probably damaging	Het
Tcaf2	C	T	6: 42,601,385 (GRCm39)	W891*	probably null	Het
Tcf15	C	A	2: 151,985,808 (GRCm39)	T88K	probably damaging	Het
Tmem19	A	T	10: 115,183,122 (GRCm39)	M117K	probably damaging	Het
Trim32	T	C	4: 65,532,241 (GRCm39)	L266P	probably benign	Het
Vmn2r11	T	C	5: 109,201,707 (GRCm39)	I266V	probably benign	Het
Vmn2r73	A	T	7: 85,519,486 (GRCm39)	Y491N	probably benign	Het
Wrn	C	T	8: 33,782,744 (GRCm39)	E486K	probably benign	Het
Zfp457	T	C	13: 67,441,501 (GRCm39)	E262G	probably damaging	Het
Zfp598	A	G	17: 24,897,603 (GRCm39)	D308G	probably null	Het
Zup1	T	C	10: 33,803,436 (GRCm39)	I549M	probably damaging	Het

Other mutations in 1700020L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:1700020L24Rik	APN	11	83,331,621 (GRCm39)	missense	possibly damaging	0.93
PIT4280001:1700020L24Rik	UTSW	11	83,331,660 (GRCm39)	missense	probably damaging	1.00
R1939:1700020L24Rik	UTSW	11	83,331,130 (GRCm39)	missense	probably damaging	1.00
R2118:1700020L24Rik	UTSW	11	83,331,190 (GRCm39)	missense	possibly damaging	0.84
R2386:1700020L24Rik	UTSW	11	83,328,575 (GRCm39)	missense	probably damaging	1.00
R7088:1700020L24Rik	UTSW	11	83,331,232 (GRCm39)	nonsense	probably null
R8799:1700020L24Rik	UTSW	11	83,331,578 (GRCm39)	missense	probably damaging	1.00
Z1088:1700020L24Rik	UTSW	11	83,331,332 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGAAGCCCTTTCGCAAGTAAC -3'
(R):5'- TAAGGCTCGGTCCCAGGTTCTTTC -3'

Sequencing Primer
(F):5'- caccgttccgtcccgtc -3'
(R):5'- GTCTCACCTGTCTGCCG -3'

Posted On

2014-04-13