Mutagenetix > Incidental Mutation

Incidental Mutation 'R8201:1700006A11Rik'

635662

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8201 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124401397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 543 (E543G)

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029598] [ENSMUST00000198630]

AlphaFold

B9EHI3

Predicted Effect

probably benign
Transcript: ENSMUST00000029598
AA Change: E543G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: E543G

Domain	Start	End	E-Value	Type
RhoGAP	78	251	3.63e-37	SMART
RhoGAP	377	543	3.19e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198630

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,193,159	N302K	possibly damaging	Het
Apbb2	T	C	5: 66,309,115	N609S	probably benign	Het
Atp10a	G	T	7: 58,819,676	G1092*	probably null	Het
Ccdc150	A	G	1: 54,329,487	N618S	probably benign	Het
Cct4	T	A	11: 22,999,115	V287E	probably damaging	Het
Cyp2j7	A	T	4: 96,195,327	I462N	probably damaging	Het
Dnajc6	C	T	4: 101,618,763	A611V	probably benign	Het
Dusp10	C	A	1: 184,037,005	A56E	possibly damaging	Het
Fam189b	T	C	3: 89,185,808	V291A	probably damaging	Het
Fat3	A	C	9: 15,997,477	C2410G	possibly damaging	Het
Fcgrt	T	A	7: 45,095,210	Q274L	possibly damaging	Het
Fdxacb1	G	T	9: 50,770,155		probably benign	Het
Fubp1	T	A	3: 152,222,186	I424N	probably damaging	Het
Gm5114	T	A	7: 39,410,949	T159S	probably damaging	Het
Gm7168	T	C	17: 13,949,780	C470R	probably benign	Het
Hebp1	A	G	6: 135,137,908	V185A	possibly damaging	Het
Il18rap	G	T	1: 40,539,269	R280I	possibly damaging	Het
Mamdc4	T	C	2: 25,566,081	N771S	probably damaging	Het
Ndufaf4	A	G	4: 24,898,197	N11D	possibly damaging	Het
Nkiras1	T	C	14: 18,276,908		probably benign	Het
Noct	T	C	3: 51,248,023	S135P	probably benign	Het
Olfr18	T	C	9: 20,314,612	M103V	probably benign	Het
Olfr317	A	C	11: 58,733,114	F17C	probably damaging	Het
Olfr330	A	T	11: 58,529,039	*316R	noncoding transcript	Het
Olfr382	T	A	11: 73,517,073	N42I	probably damaging	Het
Olfr873	G	T	9: 20,301,021	G271C	probably damaging	Het
Pcdhac1	A	T	18: 37,090,839	H235L	probably benign	Het
Pcdhb22	G	T	18: 37,518,465		probably benign	Het
Pdlim1	A	T	19: 40,230,514	D224E	probably benign	Het
Plpp3	G	T	4: 105,219,358	G223W	probably damaging	Het
Rcan3	A	G	4: 135,420,373	F81S	probably damaging	Het
Sel1l2	A	C	2: 140,266,392	Y191D	probably damaging	Het
Supt16	A	G	14: 52,170,990	F833L	probably damaging	Het
Tchh	T	C	3: 93,443,474	F74L	probably damaging	Het
Tgfbr3	T	C	5: 107,130,565	D725G	probably benign	Het
Tmem14c	C	T	13: 41,017,710	P10S	probably benign	Het
Ubb	G	A	11: 62,552,227	A28T	probably benign	Het
Vars2	A	T	17: 35,658,310	V833E	probably benign	Het
Zfyve9	T	C	4: 108,650,277	D528G	possibly damaging	Het

Other mutations in 1700006A11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:1700006A11Rik	APN	3	124401409	missense	probably benign	0.30
IGL02552:1700006A11Rik	APN	3	124414496	missense	probably damaging	1.00
IGL03092:1700006A11Rik	APN	3	124406470	missense	probably damaging	1.00
R0094:1700006A11Rik	UTSW	3	124409778	splice site	probably benign
R0097:1700006A11Rik	UTSW	3	124412480	missense	probably benign	0.13
R0097:1700006A11Rik	UTSW	3	124412480	missense	probably benign	0.13
R0184:1700006A11Rik	UTSW	3	124419250	missense	probably damaging	1.00
R0361:1700006A11Rik	UTSW	3	124413634	missense	possibly damaging	0.69
R1542:1700006A11Rik	UTSW	3	124414406	missense	possibly damaging	0.95
R1549:1700006A11Rik	UTSW	3	124416792	missense	probably benign	0.00
R1779:1700006A11Rik	UTSW	3	124406514	missense	probably damaging	0.99
R1839:1700006A11Rik	UTSW	3	124409720	missense	probably damaging	0.99
R1986:1700006A11Rik	UTSW	3	124419328	missense	probably damaging	0.99
R2042:1700006A11Rik	UTSW	3	124416728	splice site	probably benign
R2149:1700006A11Rik	UTSW	3	124409686	missense	probably benign	0.33
R2258:1700006A11Rik	UTSW	3	124413618	missense	possibly damaging	0.84
R2291:1700006A11Rik	UTSW	3	124413801	missense	probably damaging	1.00
R2509:1700006A11Rik	UTSW	3	124406453	missense	probably benign	0.44
R4912:1700006A11Rik	UTSW	3	124419856	missense	possibly damaging	0.68
R5074:1700006A11Rik	UTSW	3	124416833	missense	probably benign	0.01
R5303:1700006A11Rik	UTSW	3	124406350	missense	probably damaging	1.00
R5307:1700006A11Rik	UTSW	3	124406350	missense	probably damaging	1.00
R5308:1700006A11Rik	UTSW	3	124406350	missense	probably damaging	1.00
R5796:1700006A11Rik	UTSW	3	124421428	missense	possibly damaging	0.66
R6018:1700006A11Rik	UTSW	3	124416799	missense	probably damaging	1.00
R6198:1700006A11Rik	UTSW	3	124416850	splice site	probably null
R6504:1700006A11Rik	UTSW	3	124419920	missense	probably benign
R7124:1700006A11Rik	UTSW	3	124414393	missense	probably benign	0.04
R7248:1700006A11Rik	UTSW	3	124414310	critical splice donor site	probably null
R7351:1700006A11Rik	UTSW	3	124412510	missense	probably damaging	1.00
R7709:1700006A11Rik	UTSW	3	124407685	missense	probably damaging	1.00
R7773:1700006A11Rik	UTSW	3	124412531	missense	probably benign	0.00
R8193:1700006A11Rik	UTSW	3	124419868	missense	possibly damaging	0.84
R9157:1700006A11Rik	UTSW	3	124413571	missense	probably benign	0.22
R9313:1700006A11Rik	UTSW	3	124413571	missense	probably benign	0.22
R9585:1700006A11Rik	UTSW	3	124406344	missense	possibly damaging	0.73
R9683:1700006A11Rik	UTSW	3	124406446	missense	probably benign	0.01
R9721:1700006A11Rik	UTSW	3	124419283	missense	probably benign	0.00
X0063:1700006A11Rik	UTSW	3	124419862	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGATTCTCATTTCTGGACAGAAGC -3'
(R):5'- CACTGTGCAGAGTGTGGATG -3'

Sequencing Primer
(F):5'- TTTCTGGACAGAAGCAAAAATCC -3'
(R):5'- CACTGTGCAGAGTGTGGATGATATTC -3'

Posted On

2020-07-13