Mutagenetix > Incidental Mutation

Incidental Mutation 'R2509:1700006A11Rik'

251700

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

040415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124406453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 497 (I497V)

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: I497V

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: I497V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082981

Predicted Effect

probably benign
Transcript: ENSMUST00000198630

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (105/109)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,625,300 (GRCm38)	M506V	probably benign	Het
4930571K23Rik	C	A	7: 125,369,139 (GRCm38)		noncoding transcript	Het
Abca17	G	T	17: 24,289,613 (GRCm38)		probably benign	Het
Ablim1	C	T	19: 57,152,359 (GRCm38)	R196Q	probably damaging	Het
Acot11	T	C	4: 106,755,319 (GRCm38)	I379V	possibly damaging	Het
Acot4	G	A	12: 84,041,873 (GRCm38)	G165D	probably damaging	Het
Agrn	A	T	4: 156,166,424 (GRCm38)		probably null	Het
Ahctf1	T	C	1: 179,770,693 (GRCm38)	S945G	possibly damaging	Het
Akr1c13	C	T	13: 4,198,584 (GRCm38)	R263C	probably damaging	Het
Arfgap1	T	A	2: 180,974,053 (GRCm38)		probably benign	Het
Arhgef3	A	G	14: 27,379,676 (GRCm38)	K103R	probably damaging	Het
Cabp1	A	T	5: 115,172,784 (GRCm38)	N211K	probably damaging	Het
Cacna1c	T	A	6: 118,734,982 (GRCm38)	D261V	probably damaging	Het
Car11	G	A	7: 45,701,359 (GRCm38)	G93E	probably damaging	Het
Card10	A	G	15: 78,780,273 (GRCm38)	I821T	probably benign	Het
Cast	T	C	13: 74,737,616 (GRCm38)	I277V	probably benign	Het
Cenpj	T	C	14: 56,532,237 (GRCm38)	K1165R	probably null	Het
Cenpk	A	G	13: 104,234,167 (GRCm38)		probably null	Het
Cmya5	T	C	13: 93,093,558 (GRCm38)	Q1674R	probably benign	Het
Cnnm1	T	A	19: 43,441,886 (GRCm38)	V481D	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
Cyp2c50	G	A	19: 40,090,569 (GRCm38)	V119I	probably benign	Het
Dnah7b	A	G	1: 46,195,287 (GRCm38)	T1460A	probably damaging	Het
Dnah8	G	A	17: 30,775,045 (GRCm38)	D3379N	probably benign	Het
Dnajc4	C	T	19: 6,990,743 (GRCm38)	R55H	probably damaging	Het
Ebf4	C	T	2: 130,306,562 (GRCm38)	R98*	probably null	Het
Epha4	G	A	1: 77,511,702 (GRCm38)	A47V	possibly damaging	Het
Ercc8	T	C	13: 108,183,717 (GRCm38)		probably benign	Het
Exo1	T	C	1: 175,905,833 (GRCm38)	F75S	probably damaging	Het
Fam168a	G	T	7: 100,834,184 (GRCm38)		probably null	Het
Fat3	G	A	9: 15,925,014 (GRCm38)	R4065W	possibly damaging	Het
Gm10639	T	A	9: 78,294,807 (GRCm38)	M1K	probably null	Het
Gm13103	G	A	4: 143,851,991 (GRCm38)	V274I	probably benign	Het
Gm5431	T	A	11: 48,888,709 (GRCm38)	N740I	probably benign	Het
Gm5900	T	A	7: 104,950,364 (GRCm38)		noncoding transcript	Het
Gpi1	A	G	7: 34,205,923 (GRCm38)	S359P	probably damaging	Het
Gpr156	A	G	16: 37,947,787 (GRCm38)	R22G	probably benign	Het
Greb1	A	G	12: 16,724,922 (GRCm38)	V158A	probably damaging	Het
Grin2c	T	A	11: 115,251,068 (GRCm38)	K842*	probably null	Het
Hnf4a	T	A	2: 163,566,241 (GRCm38)	L329Q	probably damaging	Het
Hsp90ab1	A	G	17: 45,569,341 (GRCm38)	L92P	probably damaging	Het
Ido1	T	A	8: 24,584,485 (GRCm38)	R290*	probably null	Het
Ifnlr1	G	T	4: 135,705,248 (GRCm38)	D332Y	probably damaging	Het
Ift172	T	C	5: 31,262,968 (GRCm38)	N1108S	probably benign	Het
Igkv3-9	T	A	6: 70,588,744 (GRCm38)	M109K	probably benign	Het
Igsf10	T	C	3: 59,331,866 (GRCm38)	D298G	probably damaging	Het
Iqck	T	G	7: 118,876,282 (GRCm38)	M98R	probably benign	Het
Klk1b1	T	C	7: 43,969,379 (GRCm38)	V60A	probably damaging	Het
Krtap1-3	C	T	11: 99,590,827 (GRCm38)	E165K	unknown	Het
Lair1	A	G	7: 4,010,783 (GRCm38)	L155P	probably damaging	Het
Mast4	G	T	13: 102,853,842 (GRCm38)	S57Y	probably damaging	Het
Mical3	T	C	6: 121,034,157 (GRCm38)	H360R	probably damaging	Het
Muc5b	A	T	7: 141,859,061 (GRCm38)	N1915Y	unknown	Het
Myh1	A	G	11: 67,205,597 (GRCm38)	I301V	probably benign	Het
Nck2	T	A	1: 43,554,233 (GRCm38)	V200E	probably damaging	Het
Olfr10	T	G	11: 49,318,221 (GRCm38)	L225R	probably damaging	Het
Olfr1214	T	G	2: 88,987,431 (GRCm38)	Y257S	probably damaging	Het
Olfr1271	T	C	2: 90,265,686 (GRCm38)	Y248C	possibly damaging	Het
Olfr1282	C	T	2: 111,335,731 (GRCm38)	V116I	probably damaging	Het
Olfr1313	T	A	2: 112,072,492 (GRCm38)	L30F	probably benign	Het
Olfr1453	T	A	19: 13,027,694 (GRCm38)	I212F	probably damaging	Het
Olfr668	G	A	7: 104,925,687 (GRCm38)	H26Y	probably benign	Het
Olfr870	A	G	9: 20,171,229 (GRCm38)	L114P	probably damaging	Het
Otoa	C	T	7: 121,160,472 (GRCm38)	T1099I	probably benign	Het
Pask	T	A	1: 93,330,763 (GRCm38)	I288F	possibly damaging	Het
Pcnx4	T	C	12: 72,566,972 (GRCm38)	W564R	probably damaging	Het
Pitpnm2	T	C	5: 124,136,326 (GRCm38)	E240G	probably damaging	Het
Ppp1r16b	A	G	2: 158,761,463 (GRCm38)	Y436C	possibly damaging	Het
Prkca	T	C	11: 107,979,206 (GRCm38)	Y37C	probably damaging	Het
Rad18	T	G	6: 112,675,922 (GRCm38)	H238P	possibly damaging	Het
Rap1b	T	A	10: 117,818,539 (GRCm38)	Q1L	probably damaging	Het
Rgs9	T	C	11: 109,268,972 (GRCm38)	Y178C	probably benign	Het
Rpl3l	A	T	17: 24,732,386 (GRCm38)	D87V	possibly damaging	Het
Scrn2	T	C	11: 97,033,166 (GRCm38)	V292A	possibly damaging	Het
Sdad1	A	G	5: 92,305,825 (GRCm38)	Y35H	probably benign	Het
Sez6l2	T	C	7: 126,953,772 (GRCm38)	S177P	probably benign	Het
Sh3bp1	C	T	15: 78,911,506 (GRCm38)	P612S	probably damaging	Het
Shank1	G	A	7: 44,352,123 (GRCm38)	A1089T	unknown	Het
Shank1	T	C	7: 44,351,724 (GRCm38)	S956P	unknown	Het
Shprh	G	A	10: 11,166,724 (GRCm38)	C817Y	probably damaging	Het
Spata22	C	T	11: 73,345,767 (GRCm38)	P300S	probably damaging	Het
Sstr2	A	T	11: 113,624,923 (GRCm38)	I223F	probably damaging	Het
Stom	C	T	2: 35,320,342 (GRCm38)	A217T	probably damaging	Het
Stpg1	T	C	4: 135,536,649 (GRCm38)	V341A	probably benign	Het
Tagap	A	G	17: 7,928,754 (GRCm38)	T99A	probably benign	Het
Tas1r2	A	G	4: 139,659,851 (GRCm38)	N207S	probably damaging	Het
Thbs2	A	G	17: 14,685,843 (GRCm38)	V265A	probably benign	Het
Thyn1	A	G	9: 27,000,020 (GRCm38)	R3G	possibly damaging	Het
Tia1	T	A	6: 86,424,330 (GRCm38)		probably null	Het
Tktl2	A	G	8: 66,512,852 (GRCm38)	E354G	probably benign	Het
Tmc8	A	G	11: 117,792,685 (GRCm38)	T689A	possibly damaging	Het
Tmem11	A	T	11: 60,864,981 (GRCm38)		probably null	Het
Tmem55b	A	T	14: 50,929,658 (GRCm38)	Y129*	probably null	Het
Tmem57	A	G	4: 134,804,388 (GRCm38)	S657P	probably damaging	Het
Tnik	T	C	3: 28,667,915 (GRCm38)	V1310A	probably damaging	Het
Trappc10	A	G	10: 78,211,523 (GRCm38)	S380P	possibly damaging	Het
Trim8	C	T	19: 46,515,295 (GRCm38)	P429S	probably benign	Het
Ttc25	T	G	11: 100,553,535 (GRCm38)	L222R	probably damaging	Het
Ttn	C	A	2: 76,857,412 (GRCm38)		probably benign	Het
Ulk2	T	C	11: 61,787,514 (GRCm38)	Y793C	probably benign	Het
Vill	G	A	9: 119,070,302 (GRCm38)	V337M	possibly damaging	Het
Vps53	C	A	11: 76,066,835 (GRCm38)	V364F	possibly damaging	Het
Wdr66	A	G	5: 123,256,106 (GRCm38)	K353E	probably benign	Het
Zan	A	T	5: 137,456,586 (GRCm38)	I1396N	unknown	Het
Zfa-ps	A	C	10: 52,544,243 (GRCm38)		noncoding transcript	Het
Zfp426	T	C	9: 20,470,681 (GRCm38)	T337A	possibly damaging	Het
Zfp536	T	C	7: 37,567,978 (GRCm38)	E671G	possibly damaging	Het
Zfp985	A	G	4: 147,582,986 (GRCm38)	T104A	possibly damaging	Het

Other mutations in 1700006A11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:1700006A11Rik	APN	3	124,401,409 (GRCm38)	missense	probably benign	0.30
IGL02552:1700006A11Rik	APN	3	124,414,496 (GRCm38)	missense	probably damaging	1.00
IGL03092:1700006A11Rik	APN	3	124,406,470 (GRCm38)	missense	probably damaging	1.00
R0094:1700006A11Rik	UTSW	3	124,409,778 (GRCm38)	splice site	probably benign
R0097:1700006A11Rik	UTSW	3	124,412,480 (GRCm38)	missense	probably benign	0.13
R0097:1700006A11Rik	UTSW	3	124,412,480 (GRCm38)	missense	probably benign	0.13
R0184:1700006A11Rik	UTSW	3	124,419,250 (GRCm38)	missense	probably damaging	1.00
R0361:1700006A11Rik	UTSW	3	124,413,634 (GRCm38)	missense	possibly damaging	0.69
R1542:1700006A11Rik	UTSW	3	124,414,406 (GRCm38)	missense	possibly damaging	0.95
R1549:1700006A11Rik	UTSW	3	124,416,792 (GRCm38)	missense	probably benign	0.00
R1779:1700006A11Rik	UTSW	3	124,406,514 (GRCm38)	missense	probably damaging	0.99
R1839:1700006A11Rik	UTSW	3	124,409,720 (GRCm38)	missense	probably damaging	0.99
R1986:1700006A11Rik	UTSW	3	124,419,328 (GRCm38)	missense	probably damaging	0.99
R2042:1700006A11Rik	UTSW	3	124,416,728 (GRCm38)	splice site	probably benign
R2149:1700006A11Rik	UTSW	3	124,409,686 (GRCm38)	missense	probably benign	0.33
R2258:1700006A11Rik	UTSW	3	124,413,618 (GRCm38)	missense	possibly damaging	0.84
R2291:1700006A11Rik	UTSW	3	124,413,801 (GRCm38)	missense	probably damaging	1.00
R4912:1700006A11Rik	UTSW	3	124,419,856 (GRCm38)	missense	possibly damaging	0.68
R5074:1700006A11Rik	UTSW	3	124,416,833 (GRCm38)	missense	probably benign	0.01
R5303:1700006A11Rik	UTSW	3	124,406,350 (GRCm38)	missense	probably damaging	1.00
R5307:1700006A11Rik	UTSW	3	124,406,350 (GRCm38)	missense	probably damaging	1.00
R5308:1700006A11Rik	UTSW	3	124,406,350 (GRCm38)	missense	probably damaging	1.00
R5796:1700006A11Rik	UTSW	3	124,421,428 (GRCm38)	missense	possibly damaging	0.66
R6018:1700006A11Rik	UTSW	3	124,416,799 (GRCm38)	missense	probably damaging	1.00
R6198:1700006A11Rik	UTSW	3	124,416,850 (GRCm38)	splice site	probably null
R6504:1700006A11Rik	UTSW	3	124,419,920 (GRCm38)	missense	probably benign
R7124:1700006A11Rik	UTSW	3	124,414,393 (GRCm38)	missense	probably benign	0.04
R7248:1700006A11Rik	UTSW	3	124,414,310 (GRCm38)	critical splice donor site	probably null
R7351:1700006A11Rik	UTSW	3	124,412,510 (GRCm38)	missense	probably damaging	1.00
R7709:1700006A11Rik	UTSW	3	124,407,685 (GRCm38)	missense	probably damaging	1.00
R7773:1700006A11Rik	UTSW	3	124,412,531 (GRCm38)	missense	probably benign	0.00
R8193:1700006A11Rik	UTSW	3	124,419,868 (GRCm38)	missense	possibly damaging	0.84
R8201:1700006A11Rik	UTSW	3	124,401,397 (GRCm38)	missense	probably benign	0.00
R9157:1700006A11Rik	UTSW	3	124,413,571 (GRCm38)	missense	probably benign	0.22
R9313:1700006A11Rik	UTSW	3	124,413,571 (GRCm38)	missense	probably benign	0.22
R9585:1700006A11Rik	UTSW	3	124,406,344 (GRCm38)	missense	possibly damaging	0.73
R9683:1700006A11Rik	UTSW	3	124,406,446 (GRCm38)	missense	probably benign	0.01
R9721:1700006A11Rik	UTSW	3	124,419,283 (GRCm38)	missense	probably benign	0.00
X0063:1700006A11Rik	UTSW	3	124,419,862 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGATCATGATCAAGACTCTTTTCCC -3'
(R):5'- CCAGTGGATTGCTACAATGTG -3'

Sequencing Primer
(F):5'- TGATCAAGACTCTTTTCCCAAAAGC -3'
(R):5'- GGCACCAGGCTCATGTAGTATAC -3'

Posted On

2014-12-04