Mutagenetix > Incidental Mutation

Incidental Mutation 'R9577:2700062C07Rik'

722383

Institutional Source

Beutler Lab

Gene Symbol

2700062C07Rik

Ensembl Gene

ENSMUSG00000024273

Gene Name

RIKEN cDNA 2700062C07 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R9577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24603928-24610824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24608663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 128 (A128S)

Ref Sequence

ENSEMBL: ENSMUSP00000095251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097646]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000097646
AA Change: A128S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095251
Gene: ENSMUSG00000024273
AA Change: A128S

Domain	Start	End	E-Value	Type
Pfam:DUF4674	27	217	3.9e-80	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,810,768 (GRCm39)	Y116H	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ankar	C	A	1: 72,721,067 (GRCm39)	V464L	probably benign	Het
Arap2	A	T	5: 62,769,060 (GRCm39)	I1526N	probably damaging	Het
Atad5	T	A	11: 80,004,996 (GRCm39)	N1144K	probably damaging	Het
B3gntl1	T	C	11: 121,515,040 (GRCm39)	T243A	probably benign	Het
Baz2b	T	C	2: 59,809,031 (GRCm39)	T73A	probably benign	Het
Bnip5	A	T	17: 29,128,382 (GRCm39)	I177K	probably benign	Het
Brms1l	A	G	12: 55,906,876 (GRCm39)	S148G	probably damaging	Het
Btnl1	A	G	17: 34,603,335 (GRCm39)	D332G	probably benign	Het
Card9	T	A	2: 26,242,344 (GRCm39)	T531S	probably damaging	Het
Ccdc71	C	T	9: 108,340,472 (GRCm39)	A95V	possibly damaging	Het
Cdh23	A	G	10: 60,146,895 (GRCm39)	V2787A	probably damaging	Het
Chd7	A	G	4: 8,752,964 (GRCm39)	E487G	unknown	Het
Col22a1	T	C	15: 71,837,595 (GRCm39)	K505R	probably damaging	Het
Dennd1b	T	C	1: 139,018,196 (GRCm39)	V180A		Het
Dmxl2	A	G	9: 54,323,664 (GRCm39)	V1066A	unknown	Het
Dnah9	C	T	11: 65,867,347 (GRCm39)	V2744M	probably benign	Het
Fam83e	G	T	7: 45,376,439 (GRCm39)	R384L	possibly damaging	Het
Fbxo42	T	A	4: 140,907,743 (GRCm39)	Y134*	probably null	Het
Fmn1	C	T	2: 113,194,470 (GRCm39)	P57S	unknown	Het
Gm6309	T	C	5: 146,105,700 (GRCm39)	R155G	possibly damaging	Het
Gnpda1	T	C	18: 38,463,605 (GRCm39)	T235A	probably benign	Het
Gsdmc2	T	A	15: 63,696,906 (GRCm39)	I422F	probably damaging	Het
Itfg1	A	G	8: 86,502,798 (GRCm39)	V256A	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,399,138 (GRCm39)	V433A	probably benign	Het
Kif3a	T	C	11: 53,475,231 (GRCm39)	F363S	probably damaging	Het
Lman2l	T	C	1: 36,467,490 (GRCm39)	D186G	probably damaging	Het
Lmntd2	T	C	7: 140,790,990 (GRCm39)	T448A	probably benign	Het
Magi2	C	T	5: 20,814,282 (GRCm39)	A898V	probably damaging	Het
Mri1	A	G	8: 84,982,929 (GRCm39)	V164A	probably damaging	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Nxpe2	G	A	9: 48,237,632 (GRCm39)	R208*	probably null	Het
Or1j1	C	A	2: 36,702,567 (GRCm39)	C179F	probably damaging	Het
Or8g28	A	G	9: 39,169,737 (GRCm39)	V77A	possibly damaging	Het
Pcdha12	C	T	18: 37,155,126 (GRCm39)	A615V	probably benign	Het
Pou4f3	C	G	18: 42,528,563 (GRCm39)	P169A	probably benign	Het
Pramel52-ps	A	T	5: 94,531,805 (GRCm39)	R230*	probably null	Het
Prss36	T	C	7: 127,533,673 (GRCm39)	I556V	probably benign	Het
Psg23	A	T	7: 18,346,067 (GRCm39)	D209E	probably benign	Het
Ptpn13	C	A	5: 103,676,675 (GRCm39)	D679E	probably damaging	Het
Ptprz1	G	T	6: 23,002,202 (GRCm39)	D1431Y	probably damaging	Het
Sdccag8	T	A	1: 176,658,629 (GRCm39)	L143M	probably damaging	Het
Shroom1	A	G	11: 53,357,612 (GRCm39)	Q721R	probably benign	Het
Spdye4b	A	G	5: 143,182,055 (GRCm39)	M118V	probably damaging	Het
Tbc1d1	T	A	5: 64,473,699 (GRCm39)	S741T	possibly damaging	Het
Tbx18	A	G	9: 87,611,512 (GRCm39)		probably null	Het
Tm9sf4	T	C	2: 153,037,294 (GRCm39)	F385S	probably benign	Het
Trpm4	A	T	7: 44,954,432 (GRCm39)	L1133*	probably null	Het
Trpm5	A	G	7: 142,633,131 (GRCm39)		probably null	Het
Ube4b	A	G	4: 149,468,231 (GRCm39)	S182P	possibly damaging	Het
Ugt2b36	T	C	5: 87,228,784 (GRCm39)	T420A	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Zc3h6	T	A	2: 128,858,102 (GRCm39)	I711K		Het
Zer1	T	C	2: 29,991,050 (GRCm39)	Y726C	probably damaging	Het

Other mutations in 2700062C07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01919:2700062C07Rik	APN	18	24,608,580 (GRCm39)	critical splice acceptor site	probably null
IGL02217:2700062C07Rik	APN	18	24,603,955 (GRCm39)	utr 5 prime	probably benign
R1108:2700062C07Rik	UTSW	18	24,610,333 (GRCm39)	missense	probably benign	0.09
R1422:2700062C07Rik	UTSW	18	24,610,333 (GRCm39)	missense	probably benign	0.09
R2212:2700062C07Rik	UTSW	18	24,603,977 (GRCm39)	missense	probably damaging	1.00
R4030:2700062C07Rik	UTSW	18	24,608,715 (GRCm39)	missense	probably benign	0.00
R4246:2700062C07Rik	UTSW	18	24,606,013 (GRCm39)	missense	possibly damaging	0.73
R4248:2700062C07Rik	UTSW	18	24,606,013 (GRCm39)	missense	possibly damaging	0.73
R4249:2700062C07Rik	UTSW	18	24,606,013 (GRCm39)	missense	possibly damaging	0.73
R4734:2700062C07Rik	UTSW	18	24,603,961 (GRCm39)	start codon destroyed	probably null	0.86
R7269:2700062C07Rik	UTSW	18	24,606,013 (GRCm39)	missense	probably damaging	0.98
R7903:2700062C07Rik	UTSW	18	24,608,783 (GRCm39)	critical splice donor site	probably null
R8125:2700062C07Rik	UTSW	18	24,608,709 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAACCAGCACCTTCTCGTTGG -3'
(R):5'- TGCTCAGGATGCACATGAAAC -3'

Sequencing Primer
(F):5'- AAGCTCCCAGAGGACAGTTTCTG -3'
(R):5'- CAGACACTTCATGTTTCACACAG -3'

Posted On

2022-08-09