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

045437-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124194639-124219688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124206159 bp (GRCm39)

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
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Ddx42	A	G	11: 106,138,508 (GRCm39)	N769S	probably benign	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,601,854 (GRCm39)	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or4a73	C	T	2: 89,420,857 (GRCm39)	G201S	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Serpina10	A	T	12: 103,595,194 (GRCm39)	F8L	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,196,755 (GRCm39)	V27E	probably benign	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	probably damaging	Het

Other mutations in 1700006A11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:1700006A11Rik	APN	3	124,195,058 (GRCm39)	missense	probably benign	0.30
IGL02552:1700006A11Rik	APN	3	124,208,145 (GRCm39)	missense	probably damaging	1.00
IGL03092:1700006A11Rik	APN	3	124,200,119 (GRCm39)	missense	probably damaging	1.00
R0094:1700006A11Rik	UTSW	3	124,203,427 (GRCm39)	splice site	probably benign
R0097:1700006A11Rik	UTSW	3	124,206,129 (GRCm39)	missense	probably benign	0.13
R0097:1700006A11Rik	UTSW	3	124,206,129 (GRCm39)	missense	probably benign	0.13
R0184:1700006A11Rik	UTSW	3	124,212,899 (GRCm39)	missense	probably damaging	1.00
R0361:1700006A11Rik	UTSW	3	124,207,283 (GRCm39)	missense	possibly damaging	0.69
R1542:1700006A11Rik	UTSW	3	124,208,055 (GRCm39)	missense	possibly damaging	0.95
R1549:1700006A11Rik	UTSW	3	124,210,441 (GRCm39)	missense	probably benign	0.00
R1779:1700006A11Rik	UTSW	3	124,200,163 (GRCm39)	missense	probably damaging	0.99
R1839:1700006A11Rik	UTSW	3	124,203,369 (GRCm39)	missense	probably damaging	0.99
R1986:1700006A11Rik	UTSW	3	124,212,977 (GRCm39)	missense	probably damaging	0.99
R2042:1700006A11Rik	UTSW	3	124,210,377 (GRCm39)	splice site	probably benign
R2149:1700006A11Rik	UTSW	3	124,203,335 (GRCm39)	missense	probably benign	0.33
R2258:1700006A11Rik	UTSW	3	124,207,267 (GRCm39)	missense	possibly damaging	0.84
R2291:1700006A11Rik	UTSW	3	124,207,450 (GRCm39)	missense	probably damaging	1.00
R2509:1700006A11Rik	UTSW	3	124,200,102 (GRCm39)	missense	probably benign	0.44
R4912:1700006A11Rik	UTSW	3	124,213,505 (GRCm39)	missense	possibly damaging	0.68
R5074:1700006A11Rik	UTSW	3	124,210,482 (GRCm39)	missense	probably benign	0.01
R5303:1700006A11Rik	UTSW	3	124,199,999 (GRCm39)	missense	probably damaging	1.00
R5307:1700006A11Rik	UTSW	3	124,199,999 (GRCm39)	missense	probably damaging	1.00
R5308:1700006A11Rik	UTSW	3	124,199,999 (GRCm39)	missense	probably damaging	1.00
R5796:1700006A11Rik	UTSW	3	124,215,077 (GRCm39)	missense	possibly damaging	0.66
R6018:1700006A11Rik	UTSW	3	124,210,448 (GRCm39)	missense	probably damaging	1.00
R6198:1700006A11Rik	UTSW	3	124,210,499 (GRCm39)	splice site	probably null
R6504:1700006A11Rik	UTSW	3	124,213,569 (GRCm39)	missense	probably benign
R7124:1700006A11Rik	UTSW	3	124,208,042 (GRCm39)	missense	probably benign	0.04
R7248:1700006A11Rik	UTSW	3	124,207,959 (GRCm39)	critical splice donor site	probably null
R7709:1700006A11Rik	UTSW	3	124,201,334 (GRCm39)	missense	probably damaging	1.00
R7773:1700006A11Rik	UTSW	3	124,206,180 (GRCm39)	missense	probably benign	0.00
R8193:1700006A11Rik	UTSW	3	124,213,517 (GRCm39)	missense	possibly damaging	0.84
R8201:1700006A11Rik	UTSW	3	124,195,046 (GRCm39)	missense	probably benign	0.00
R9157:1700006A11Rik	UTSW	3	124,207,220 (GRCm39)	missense	probably benign	0.22
R9313:1700006A11Rik	UTSW	3	124,207,220 (GRCm39)	missense	probably benign	0.22
R9585:1700006A11Rik	UTSW	3	124,199,993 (GRCm39)	missense	possibly damaging	0.73
R9683:1700006A11Rik	UTSW	3	124,200,095 (GRCm39)	missense	probably benign	0.01
R9721:1700006A11Rik	UTSW	3	124,212,932 (GRCm39)	missense	probably benign	0.00
X0063:1700006A11Rik	UTSW	3	124,213,511 (GRCm39)	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