Mutagenetix > Incidental Mutation

Incidental Mutation 'R8017:1110065P20Rik'

628804

Institutional Source

Beutler Lab

Gene Symbol

1110065P20Rik

Ensembl Gene

ENSMUSG00000078570

Gene Name

RIKEN cDNA 1110065P20 gene

Synonyms

MMRRC Submission

067457-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8017 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

124743284-124744479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124744469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 51 (A51E)

Ref Sequence

ENSEMBL: ENSMUSP00000139121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030723] [ENSMUST00000064444] [ENSMUST00000102628] [ENSMUST00000106190] [ENSMUST00000106193] [ENSMUST00000137769] [ENSMUST00000185036] [ENSMUST00000144851] [ENSMUST00000163946]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030723

SMART Domains

Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890

Domain	Start	End	E-Value	Type
ZnF_C2H2	139	163	1.22e-4	SMART
ZnF_C2H2	169	193	6.42e-4	SMART
ZnF_C2H2	199	223	2.4e-3	SMART
ZnF_C2H2	228	252	2.57e-3	SMART
ZnF_C2H2	258	282	2.57e-3	SMART
ZnF_C2H2	288	312	7.37e-4	SMART
low complexity region	429	456	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	545	558	N/A	INTRINSIC
low complexity region	628	638	N/A	INTRINSIC
low complexity region	656	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064444

SMART Domains

Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	31	46	N/A	INTRINSIC
low complexity region	55	79	N/A	INTRINSIC
Pfam:Glyco_hydro_99	95	445	8.7e-160	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102628

SMART Domains

Protein: ENSMUSP00000099688
Gene: ENSMUSG00000028889

Domain	Start	End	E-Value	Type
low complexity region	32	63	N/A	INTRINSIC
Pfam:Sua5_yciO_yrdC	76	256	1.3e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106190

SMART Domains

Protein: ENSMUSP00000101796
Gene: ENSMUSG00000078570

Domain	Start	End	E-Value	Type
Pfam:DUF4726	10	110	2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106193

SMART Domains

Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890

Domain	Start	End	E-Value	Type
ZnF_C2H2	139	163	1.22e-4	SMART
ZnF_C2H2	169	193	6.42e-4	SMART
ZnF_C2H2	199	223	2.4e-3	SMART
ZnF_C2H2	228	252	2.57e-3	SMART
ZnF_C2H2	258	282	2.57e-3	SMART
ZnF_C2H2	288	312	7.37e-4	SMART
low complexity region	429	456	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	545	558	N/A	INTRINSIC
low complexity region	628	638	N/A	INTRINSIC
low complexity region	656	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125776

Predicted Effect

probably benign
Transcript: ENSMUST00000137769

Predicted Effect

unknown
Transcript: ENSMUST00000185036
AA Change: A51E

SMART Domains

Protein: ENSMUSP00000139121
Gene: ENSMUSG00000078570
AA Change: A51E

Domain	Start	End	E-Value	Type
low complexity region	66	89	N/A	INTRINSIC
low complexity region	123	137	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144851

SMART Domains

Protein: ENSMUSP00000114150
Gene: ENSMUSG00000028889

Domain	Start	End	E-Value	Type
Pfam:Sua5_yciO_yrdC	1	103	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163946

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,558,410 (GRCm39)		probably null	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Bnc2	A	G	4: 84,329,662 (GRCm39)	L118P		Het
Ccdc18	T	A	5: 108,376,511 (GRCm39)	Y1317*	probably null	Het
Ccdc93	C	T	1: 121,375,993 (GRCm39)	T168M	probably damaging	Het
Cd109	G	T	9: 78,614,828 (GRCm39)	D1292Y	possibly damaging	Het
Cdh24	G	T	14: 54,876,089 (GRCm39)	N184K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cspg4b	T	A	13: 113,456,157 (GRCm39)	S734R		Het
Efemp2	T	A	19: 5,527,708 (GRCm39)	C181*	probably null	Het
Eftud2	A	G	11: 102,734,174 (GRCm39)		probably null	Het
Elp2	G	A	18: 24,739,920 (GRCm39)	V49M	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Exph5	G	A	9: 53,284,752 (GRCm39)	C611Y	probably benign	Het
Gm9376	T	G	14: 118,504,951 (GRCm39)	Y128D	probably damaging	Het
Gsdmc2	T	A	15: 63,698,762 (GRCm39)	N278I	probably benign	Het
Hace1	C	T	10: 45,514,478 (GRCm39)	T199M	probably damaging	Het
Hivep1	T	C	13: 42,321,098 (GRCm39)	V44A		Het
Homez	A	C	14: 55,095,689 (GRCm39)	D6E	probably benign	Het
Ighv5-12	A	T	12: 113,665,792 (GRCm39)	M102K	probably damaging	Het
Jup	T	C	11: 100,265,023 (GRCm39)	T643A	probably benign	Het
Krt4	T	A	15: 101,828,722 (GRCm39)	I381F	probably damaging	Het
Krt6a	A	G	15: 101,602,304 (GRCm39)	V127A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mtfr2	A	T	10: 20,229,900 (GRCm39)	N153Y	probably damaging	Het
Npas3	G	A	12: 54,091,462 (GRCm39)	V339I	probably damaging	Het
Nsun2	C	T	13: 69,775,764 (GRCm39)	R438C	probably damaging	Het
Oga	A	T	19: 45,762,107 (GRCm39)	W249R	probably damaging	Het
Or4c1	T	A	2: 89,133,595 (GRCm39)	I114F	possibly damaging	Het
Or4k47	A	C	2: 111,452,412 (GRCm39)	D2E	probably benign	Het
Or5w16	T	A	2: 87,577,392 (GRCm39)	M284K	probably damaging	Het
Pdzd2	T	C	15: 12,373,122 (GRCm39)	R2338G	probably damaging	Het
Pgm1	A	G	4: 99,843,875 (GRCm39)	M553V	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Ppp2r5e	A	G	12: 75,511,703 (GRCm39)	I340T	probably damaging	Het
Qprt	C	A	7: 126,707,996 (GRCm39)	R145L	probably damaging	Het
Sertad4	T	C	1: 192,528,829 (GRCm39)	D329G	probably benign	Het
Setd2	C	T	9: 110,431,255 (GRCm39)	T583M		Het
Slc12a7	T	C	13: 73,947,839 (GRCm39)	I652T	probably damaging	Het
Slc27a5	T	C	7: 12,723,329 (GRCm39)	D539G	probably damaging	Het
Slc36a2	A	G	11: 55,055,095 (GRCm39)	I320T	probably benign	Het
Slc6a20a	A	G	9: 123,466,917 (GRCm39)	Y524H	probably damaging	Het
Slc6a20a	T	A	9: 123,493,639 (GRCm39)	S81C	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stag3	T	C	5: 138,299,465 (GRCm39)	M828T	possibly damaging	Het
Stk36	T	C	1: 74,651,925 (GRCm39)	V406A	probably benign	Het
Svep1	G	T	4: 58,146,637 (GRCm39)	P335Q	probably damaging	Het
Svs5	T	A	2: 164,175,341 (GRCm39)	S64R	possibly damaging	Het
Taf2	A	G	15: 54,928,013 (GRCm39)	V130A	possibly damaging	Het
Tbrg4	C	T	11: 6,568,517 (GRCm39)	V421M	probably damaging	Het
Tbx4	G	T	11: 85,804,986 (GRCm39)	K358N	probably damaging	Het
Tenm4	A	T	7: 96,353,248 (GRCm39)	T384S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Zfp574	T	A	7: 24,780,095 (GRCm39)	C372*	probably null	Het

Other mutations in 1110065P20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1767:1110065P20Rik	UTSW	4	124,743,754 (GRCm39)	missense	possibly damaging	0.71
R7814:1110065P20Rik	UTSW	4	124,744,395 (GRCm39)	missense	not run
R7883:1110065P20Rik	UTSW	4	124,744,440 (GRCm39)	missense	unknown
R8019:1110065P20Rik	UTSW	4	124,744,469 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGGTGTCCAGAAGCTGCC -3'
(R):5'- CAGAACTAGCCGGCCCGT -3'

Sequencing Primer
(F):5'- TGGGCGCGTTCATCTCG -3'
(R):5'- GTCGCTCAACCCCATGC -3'

Posted On

2020-06-30