Mutagenetix > Incidental Mutation

Incidental Mutation 'R9313:1700006A11Rik'

705699

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124413571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 324 (T324A)

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: T324A

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: T324A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	A	14: 8,518,635	T274S	probably benign	Het
Aadat	G	A	8: 60,526,601	V166I	probably benign	Het
Abca17	C	T	17: 24,346,233	S75N	probably benign	Het
Adgrb1	A	G	15: 74,539,775	T376A	probably damaging	Het
Atp5o	CTTTGACG	C	16: 91,926,916		probably null	Het
Atp5o	TTTGACGGT	TT	16: 91,926,917		probably null	Het
Car9	A	G	4: 43,507,180	E42G	probably benign	Het
Cep41	T	C	6: 30,680,346	K9R	probably null	Het
Ckm	A	G	7: 19,415,473	T141A	probably benign	Het
Clcc1	G	T	3: 108,674,660	R360S	probably benign	Het
Clcn3	A	C	8: 60,937,469	I146R	probably damaging	Het
Crlf1	A	G	8: 70,498,816	D115G	probably damaging	Het
Dnah1	T	A	14: 31,266,013	I3483F	probably damaging	Het
Dopey1	T	C	9: 86,524,588	*386Q	probably null	Het
Eftud2	A	G	11: 102,839,436	V899A	probably benign	Het
Ephx3	C	G	17: 32,189,316	D45H	probably benign	Het
Faap100	A	G	11: 120,376,862	S362P	probably damaging	Het
Fdps	A	T	3: 89,099,348	D78E	probably benign	Het
Fsd1l	T	G	4: 53,694,760	W405G	probably damaging	Het
Fsd1l	T	C	4: 53,701,093	V485A	possibly damaging	Het
Gm12887	C	T	4: 121,616,504	V50M	probably benign	Het
Gm16486	G	A	8: 70,708,704	G182D	probably damaging	Het
Gm45785	T	C	7: 140,818,703	I94V	unknown	Het
Gm8251	A	G	1: 44,057,360	V1526A	probably benign	Het
Hcls1	C	T	16: 36,956,638	A230V	probably benign	Het
Hmcn1	A	C	1: 150,646,592	V3519G	probably benign	Het
Hmgcs1	A	G	13: 119,704,427	Y360C	probably benign	Het
Hsd17b13	A	G	5: 103,965,773		probably null	Het
Ift57	T	A	16: 49,736,722	D235E	possibly damaging	Het
Iltifb	A	G	10: 118,294,233	C89R	probably damaging	Het
Krt9	T	A	11: 100,188,721	Y615F	unknown	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Marco	T	C	1: 120,494,085	E130G	probably damaging	Het
Ms4a18	A	T	19: 11,011,440	L184Q	probably damaging	Het
Mtus1	A	T	8: 41,082,886	S598T	probably damaging	Het
Nbeal2	C	A	9: 110,634,368	R1265L	probably damaging	Het
Odf2	G	T	2: 29,926,803	G754C	probably benign	Het
Olfr1131	T	C	2: 87,628,732	S90P	probably benign	Het
Olfr1274-ps	C	A	2: 90,401,573	T304K	probably benign	Het
Olfr164	T	G	16: 19,286,350	Y131S	probably benign	Het
Olfr810	A	T	10: 129,790,920	I223N	probably damaging	Het
Paqr8	G	A	1: 20,934,904	W94*	probably null	Het
Pkd1	G	A	17: 24,594,958	G4132D	probably damaging	Het
Pom121l2	A	G	13: 21,984,336	M926V	probably benign	Het
Postn	A	T	3: 54,365,915	Y79F	probably damaging	Het
Prl7d1	T	C	13: 27,709,199	E242G	probably benign	Het
Rcor3	G	T	1: 192,125,881	H165Q	possibly damaging	Het
Rnf157	A	G	11: 116,359,892	V161A	probably damaging	Het
Rnf38	G	A	4: 44,143,584	T150M	probably damaging	Het
Scn4b	T	A	9: 45,146,715	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,265,413	I103T	probably damaging	Het
Shcbp1	T	A	8: 4,744,518	D425V	probably damaging	Het
Sidt2	T	C	9: 45,941,360	T776A	possibly damaging	Het
Siglecg	A	G	7: 43,412,432	D534G	probably benign	Het
Sipa1l3	T	A	7: 29,378,014	T778S	probably benign	Het
Slc13a1	A	G	6: 24,108,204	V291A	probably benign	Het
Stra6l	A	G	4: 45,881,454	I439V	probably benign	Het
Tdrd7	G	A	4: 46,005,319	S375N	probably benign	Het
Vmn1r192	T	A	13: 22,188,021	I10L	probably benign	Het
Vmn2r34	T	G	7: 7,683,818	L293F	possibly damaging	Het
Xirp2	G	T	2: 67,516,978	A3188S	probably damaging	Het
Zcchc6	A	T	13: 59,799,984	M841K	probably benign	Het
Zfp219	A	G	14: 52,008,743	V309A	probably damaging	Het
Zfp341	C	A	2: 154,627,987	P197T	probably damaging	Het
Zfp628	G	A	7: 4,919,550	R257H	probably benign	Het
Zfp644	T	G	5: 106,636,458	Y741S	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
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
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
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'- ACCTTTTACATATACTCAGGACCAC -3'
(R):5'- TTTACGTTATGATGCAAGCTCAGTG -3'

Sequencing Primer
(F):5'- GGGGATAAAAATTTACAGGCAGTTTC -3'
(R):5'- GATGCAAGCTCAGTGTCTTGCC -3'

Posted On

2022-03-25