Mutagenetix > Incidental Mutation

Incidental Mutation 'R6504:1700006A11Rik'

523598

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

044636-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6504 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124419920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 31 (T31A)

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: T31A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: T31A

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: ENSMUST00000197975

Predicted Effect

probably benign
Transcript: ENSMUST00000198630

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,929,984	H507Q	probably damaging	Het
Ampd1	A	G	3: 103,099,595	D712G	possibly damaging	Het
Ap4m1	T	A	5: 138,178,096	D351E	probably benign	Het
Celsr1	T	C	15: 85,978,920	T1304A	probably benign	Het
Dhx36	G	T	3: 62,488,639	A449E	probably benign	Het
Dmkn	A	T	7: 30,776,429	K2N	possibly damaging	Het
Dnah10	T	C	5: 124,762,782	I1217T	possibly damaging	Het
Dph5	A	G	3: 115,926,803		probably null	Het
Dysf	T	C	6: 84,008,925	V4A	probably benign	Het
Elavl4	A	T	4: 110,255,382		probably null	Het
Ep400	T	C	5: 110,708,837		probably benign	Het
Fat2	A	G	11: 55,262,397	I3663T	probably benign	Het
Gm7233	T	A	14: 43,179,937	D15E	probably benign	Het
Grik2	A	G	10: 49,356,102	V444A	probably damaging	Het
Hdac4	T	A	1: 91,968,455	I698F	possibly damaging	Het
Kank1	T	C	19: 25,428,154	S1179P	probably damaging	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Ofcc1	A	T	13: 40,097,055	L595Q	probably damaging	Het
Olfr1464-ps1	A	C	19: 13,282,484	H191Q	possibly damaging	Het
Olfr958	C	T	9: 39,550,278	V198M	probably damaging	Het
Orc1	A	G	4: 108,590,717	I54V	probably benign	Het
Pom121l2	A	G	13: 21,983,461	Q634R	possibly damaging	Het
Prrc2c	A	G	1: 162,697,795	V414A	unknown	Het
Ranbp3l	T	C	15: 8,968,462	F13L	probably benign	Het
Scaf11	T	C	15: 96,419,460		probably null	Het
Sh3d19	A	G	3: 86,085,336	T224A	probably benign	Het
Shq1	T	A	6: 100,648,247	Y217F	probably benign	Het
Slitrk1	A	T	14: 108,911,697	H527Q	probably benign	Het
Smap2	GACTCTAC	GAC	4: 120,973,085		probably benign	Het
Stxbp1	T	C	2: 32,801,883	I432M	possibly damaging	Het
Sulf2	A	G	2: 166,083,921	Y439H	probably benign	Het
Thoc5	T	A	11: 4,924,815	C535*	probably null	Het
Tlr3	T	C	8: 45,397,449	I280V	possibly damaging	Het
Ush2a	A	G	1: 188,911,247	S4269G	probably benign	Het
Vmn1r214	A	T	13: 23,035,440	*368L	probably null	Het
Wif1	C	G	10: 121,035,091	Q92E	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
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'- AAAGCAGTATTTTGTCTTCAGGGTG -3'
(R):5'- CAGTGTTGAGTCTAGGGCAG -3'

Sequencing Primer
(F):5'- CTTCAGGGTGGCTAGGGAAG -3'
(R):5'- AAAAACTCCCACATGCTACAAC -3'

Posted On

2018-06-22