Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:1700006A11Rik'

570557

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: 0.059) question?

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124412510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 343 (G343V)

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

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

AlphaFold

B9EHI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029598
AA Change: G343V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: G343V

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	G	11: 101,991,505	E163G	probably benign	Het
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
Adamts6	G	A	13: 104,390,112	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,965,933	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,498,215	L566F	possibly damaging	Het
AU040320	A	G	4: 126,816,444	N328D	probably damaging	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Brk1	T	C	6: 113,615,781	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,216,581	F176I	probably damaging	Het
Clec12b	A	G	6: 129,379,911		probably null	Het
Ddx42	A	G	11: 106,247,682	N769S	probably benign	Het
Drc7	A	G	8: 95,058,507	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145	I486N	probably damaging	Het
Gmip	A	G	8: 69,817,384	D679G	probably benign	Het
Gml2	T	C	15: 74,821,376	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,974,365	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,382,878	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,667,889	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,275,896	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,219,605	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,448,142	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,336	R163H	probably damaging	Het
Mxd1	A	G	6: 86,651,466	S151P	probably damaging	Het
Olfr1022	G	T	2: 85,864,071		probably benign	Het
Olfr1246	C	T	2: 89,590,513	G201S	probably benign	Het
Olfr1330	T	C	4: 118,893,836	V251A	probably benign	Het
Olfr147	C	T	9: 38,403,443	L190F	probably damaging	Het
Plcg2	A	G	8: 117,590,310	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,510,328	F335I	probably benign	Het
Psd	G	T	19: 46,322,430	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,682,280	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,880	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048	E157A	probably damaging	Het
Rnf145	G	A	11: 44,548,796	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,074,785	T245A	probably benign	Het
Serpina10	A	T	12: 103,628,935	F8L	probably benign	Het
Slc16a8	T	A	15: 79,253,641	D56V	probably damaging	Het
Spag9	A	T	11: 94,092,976	E726D	probably benign	Het
Spg11	A	G	2: 122,069,931	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,464,921	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,039,411	V27E	probably benign	Het
Taf1c	A	G	8: 119,599,000	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,435,306	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,652,593	W24*	probably null	Het
Tmc8	T	C	11: 117,783,828	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,767,686	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,939,930	A2685V	unknown	Het
Usp15	A	T	10: 123,132,999	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,456,282	N363S	probably benign	Het
Vwa3a	T	A	7: 120,776,336	I423N	probably damaging	Het
Zfp592	T	C	7: 81,041,691	V1206A	probably benign	Het
Zfp866	A	T	8: 69,765,897	Y358N	probably 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
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
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'- TGGTAACAGAACTGAGTGTGAACAC -3'
(R):5'- TACCTATGTTCAGGATTTCAGGGAG -3'

Sequencing Primer
(F):5'- ACGATCCACAAAAACTATATGGTAC -3'
(R):5'- GTTCAGGATTTCAGGGAGAATAATC -3'

Posted On

2019-09-13