Mutagenetix > Incidental Mutation

Incidental Mutation 'R9585:1700006A11Rik'

722737

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9585 (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 A at 124406344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 533 (D533V)

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

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

AlphaFold

B9EHI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029598
AA Change: D533V

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: D533V

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	G	19: 42,052,913	E161G	probably benign	Het
Abca12	A	G	1: 71,303,586	S912P	probably damaging	Het
Abca3	G	A	17: 24,400,512	M1196I	probably benign	Het
Adprhl2	A	T	4: 126,317,993	D175E	probably benign	Het
Asrgl1	A	G	19: 9,113,034	L316P	probably benign	Het
Avl9	T	A	6: 56,757,314	M626K	probably damaging	Het
Birc6	A	G	17: 74,609,270	N1727S	probably damaging	Het
Casp14	G	A	10: 78,713,360	R251W	probably damaging	Het
Cfap69	A	G	5: 5,581,269	I919T	possibly damaging	Het
Cps1	T	A	1: 67,156,182	M254K	probably damaging	Het
Ctc1	A	G	11: 69,034,664	E1009G	probably damaging	Het
Ddx25	A	T	9: 35,543,713	Y426*	probably null	Het
Dok3	A	G	13: 55,524,244	F207S	probably damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Fam92b	T	C	8: 120,174,711	E85G	probably null	Het
Fcrla	A	T	1: 170,922,299	M1K	probably null	Het
Gm10471	T	C	5: 26,086,544	H88R	possibly damaging	Het
Heatr4	A	T	12: 83,967,698	S588R	probably damaging	Het
Iglv3	A	G	16: 19,241,210	*123Q	probably null	Het
Igsf9b	T	C	9: 27,322,236	I344T	probably damaging	Het
Il18	T	C	9: 50,579,361	S99P	probably damaging	Het
Krt36	G	A	11: 100,104,066	L227F	probably damaging	Het
Lrriq1	A	G	10: 103,215,389	S501P	probably benign	Het
Lvrn	T	C	18: 46,878,344		probably null	Het
Myo18a	T	A	11: 77,818,669	M535K	probably benign	Het
Myocd	T	A	11: 65,204,366	S158C	probably damaging	Het
Naip6	A	T	13: 100,300,069	C649S	probably damaging	Het
Oasl2	T	C	5: 114,897,840	V59A	probably damaging	Het
Obscn	C	A	11: 59,075,005	V2942F	probably benign	Het
Olfr1157	T	A	2: 87,962,575	T106S	probably benign	Het
Olfr517	T	A	7: 108,868,345	T270S	probably benign	Het
Osbpl6	A	G	2: 76,524,094	T18A	probably benign	Het
Pcf11	A	T	7: 92,661,798	D327E	probably benign	Het
Per3	G	T	4: 151,012,681	Q796K	probably benign	Het
Pex5l	T	C	3: 33,005,942	T227A	probably benign	Het
Phf11b	G	T	14: 59,331,255	P70T	probably benign	Het
Pkd1l1	T	G	11: 8,854,390	I2184L		Het
Polr3a	A	T	14: 24,452,221	M1288K	probably damaging	Het
Pth1r	T	A	9: 110,744,779	R3S	probably benign	Het
Ptprk	C	A	10: 28,493,151	Y706*	probably null	Het
Rmi2	C	T	16: 10,886,119	T108I	probably benign	Het
Rrbp1	T	C	2: 143,957,559	N1076S	probably benign	Het
Setd3	A	C	12: 108,108,555		probably null	Het
Slc4a1	A	G	11: 102,357,089	Y360H	probably benign	Het
Sox21	A	G	14: 118,235,581	S19P	possibly damaging	Het
Stx18	T	A	5: 38,092,572	N76K	possibly damaging	Het
Sv2c	T	C	13: 95,985,958	T437A	probably benign	Het
Trrap	G	A	5: 144,840,520	V3043M	probably damaging	Het
Vps50	T	A	6: 3,600,348	S936T	probably benign	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
R8201:1700006A11Rik	UTSW	3	124401397	missense	probably benign	0.00
R9157:1700006A11Rik	UTSW	3	124413571	missense	probably benign	0.22
R9313:1700006A11Rik	UTSW	3	124413571	missense	probably benign	0.22
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'- TTCCAAACCTCCCTGAAATAGG -3'
(R):5'- GAATTTTGATACTATGAGGTGTCCTAC -3'

Sequencing Primer
(F):5'- TGAAATAGGTCAGTGCCTCATCC -3'
(R):5'- GAGGTGTCCTACAAAAATGTTACTG -3'

Posted On

2022-08-09