Mutagenetix > Incidental Mutation

Incidental Mutation 'R0361:1700006A11Rik'

30087

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

038567-MU

Accession Numbers

Essential gene?

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

Stock #

R0361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124413634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 303 (T303P)

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: T303P

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: T303P

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	T	17: 8,992,546	V176L	probably benign	Het
1700034J05Rik	T	C	6: 146,952,371	T262A	possibly damaging	Het
Adgrl3	A	T	5: 81,760,697	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,647,214	I1773T	probably damaging	Het
Api5	A	T	2: 94,423,497	L287*	probably null	Het
Apol10b	A	T	15: 77,585,386	M197K	possibly damaging	Het
Bcl2	G	A	1: 106,712,694	R63W	probably damaging	Het
Cacna1h	A	G	17: 25,389,422	M731T	probably damaging	Het
Cav1	C	A	6: 17,339,353	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,734,007	I1118F	probably damaging	Het
Cdk7	A	T	13: 100,711,554	Y153*	probably null	Het
Cemip	A	G	7: 83,964,010	I660T	probably benign	Het
Cfap65	A	T	1: 74,925,440	L518Q	probably damaging	Het
Cngb3	A	G	4: 19,366,467	H176R	probably benign	Het
Cux1	T	A	5: 136,279,497	I1263F	probably damaging	Het
Dnajc13	A	G	9: 104,167,059	M1867T	probably benign	Het
Dock2	A	G	11: 34,438,327	L202P	probably damaging	Het
Dyrk3	A	G	1: 131,130,032	S100P	probably benign	Het
Efr3b	A	T	12: 3,977,923	S376T	probably benign	Het
Eps8l2	A	C	7: 141,356,199	N222T	probably benign	Het
Ermp1	A	T	19: 29,631,406	Y158N	probably damaging	Het
Fam13a	A	G	6: 58,987,174	V91A	probably benign	Het
Fat3	A	G	9: 15,998,403	V2101A	possibly damaging	Het
Fsip2	T	C	2: 82,975,505	S723P	possibly damaging	Het
Garem1	G	T	18: 21,299,744	C9*	probably null	Het
Gdpd5	A	G	7: 99,458,790	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,380,384		probably benign	Het
Gm4922	T	C	10: 18,783,541	T478A	probably benign	Het
Gm5483	T	C	16: 36,184,278	S7P	probably damaging	Het
H2-M5	A	G	17: 36,987,436	I329T	possibly damaging	Het
Ing4	G	A	6: 125,047,894	C200Y	probably damaging	Het
Kcnip1	A	T	11: 33,843,177	M5K	probably benign	Het
Kdsr	T	C	1: 106,747,787	E102G	probably damaging	Het
Krt15	C	T	11: 100,133,181	V346M	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrrc55	A	T	2: 85,196,245	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,212,932	I439T	probably benign	Het
Map2k6	T	C	11: 110,499,509	F290L	probably damaging	Het
Mb21d1	T	A	9: 78,433,252	K399N	probably damaging	Het
Me1	T	A	9: 86,651,002	I136F	probably damaging	Het
Mfap2	A	G	4: 141,014,983	D98G	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mst1	T	C	9: 108,084,897	F696L	probably damaging	Het
Mta1	A	G	12: 113,133,341		probably null	Het
Myh15	A	T	16: 49,114,005	N645I	probably benign	Het
Myo7b	T	A	18: 32,014,209	I94F	probably damaging	Het
Nefh	A	T	11: 4,940,799	S607T	probably benign	Het
Noa1	G	A	5: 77,297,173	Q600*	probably null	Het
Nr2f2	A	G	7: 70,358,062	V71A	possibly damaging	Het
Oas2	A	T	5: 120,738,401	F492L	probably damaging	Het
Olfm3	T	A	3: 115,120,973	D211E	probably damaging	Het
Olfr1390	A	T	11: 49,340,814	Y94F	probably benign	Het
Osmr	A	G	15: 6,841,951		probably null	Het
Plagl2	A	T	2: 153,231,603	D459E	probably benign	Het
Plch2	T	C	4: 155,006,711	D148G	possibly damaging	Het
Plxnc1	C	A	10: 94,865,007	C605F	probably damaging	Het
Ppm1m	T	C	9: 106,198,126	E108G	probably damaging	Het
Prr14l	A	C	5: 32,793,641	L1936R	probably damaging	Het
Ralgapa1	A	G	12: 55,676,569	I1771T	possibly damaging	Het
Rhobtb2	T	C	14: 69,795,908	T538A	probably benign	Het
Rictor	A	G	15: 6,784,107	N1025D	possibly damaging	Het
Sec23a	T	G	12: 58,991,018	D324A	probably damaging	Het
Srgap1	A	T	10: 122,047,192	M1K	probably null	Het
Syne2	T	A	12: 75,918,610	F801I	probably benign	Het
Synrg	T	A	11: 84,024,337		probably null	Het
Tas2r137	T	G	6: 40,491,298	F21V	probably benign	Het
Tmem260	A	T	14: 48,452,047	T108S	possibly damaging	Het
Trim2	T	C	3: 84,190,776	Y406C	probably damaging	Het
Ttn	T	C	2: 76,843,402		probably benign	Het
Vmn1r53	A	T	6: 90,224,082	S87T	possibly damaging	Het
Vmn2r115	T	A	17: 23,345,222	Y123N	probably benign	Het
Vmn2r28	T	A	7: 5,493,716	I46F	probably benign	Het
Zan	T	C	5: 137,396,766	T4381A	unknown	Het
Zfp457	A	G	13: 67,292,646	F622L	probably damaging	Het
Zfp994	A	T	17: 22,200,110	N619K	probably benign	Het
Zfy1	T	C	Y: 726,121	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,911,145	S441T	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
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
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'- CATATACTCAGGACCACTGGGAAGAGG -3'
(R):5'- GCGTGACAAATGGAACCAAAGTTAGTC -3'

Sequencing Primer
(F):5'- CATCTGTAATAAATGCCTGAGGG -3'
(R):5'- CACTGGAAAGCCTCCTCTTATAATG -3'

Posted On

2013-04-24