Mutagenetix > Incidental Mutation

Incidental Mutation 'R4912:1700006A11Rik'

379606

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

042514-MU

Accession Numbers

Essential gene?

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

Stock #

R4912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124419856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 52 (D52G)

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: D52G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: D52G

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	G	6: 149,329,389	S1311C	probably damaging	Het
Acaa1a	C	A	9: 119,342,761	R102S	probably damaging	Het
Arhgef12	G	A	9: 42,993,065	R706*	probably null	Het
Best3	A	G	10: 117,008,981	Y347C	probably damaging	Het
Birc6	T	A	17: 74,565,905	D386E	probably damaging	Het
C130050O18Rik	A	T	5: 139,414,389	T66S	probably benign	Het
Chd9	A	T	8: 91,034,230	D2201V	possibly damaging	Het
Csk	A	G	9: 57,630,780	Y48H	probably damaging	Het
Dffb	T	A	4: 153,965,407		probably benign	Het
Diaph3	A	C	14: 87,007,199	C217W	probably damaging	Het
Eml2	T	A	7: 19,193,999		probably null	Het
Ercc5	T	C	1: 44,157,057	I70T	probably damaging	Het
Fryl	AGTGTGT	AGTGT	5: 73,068,782		probably null	Het
Fsd1	C	T	17: 55,991,241	P189S	possibly damaging	Het
Gm42669	A	G	5: 107,508,817	K982R	probably damaging	Het
Gm5414	A	G	15: 101,625,010	I373T	possibly damaging	Het
Gm7356	A	G	17: 14,001,236	L177P	possibly damaging	Het
Grip1	G	A	10: 119,931,248	D93N	probably damaging	Het
Hbq1b	T	A	11: 32,287,014	M1K	probably null	Het
Hps3	C	A	3: 20,014,173	L572F	probably damaging	Het
Ighj2	T	A	12: 113,429,480		probably benign	Het
Kcna3	T	C	3: 107,037,891	M490T	probably benign	Het
Krt76	T	A	15: 101,888,162	K404*	probably null	Het
Lgr4	A	T	2: 110,006,502		probably null	Het
Ltbp4	G	T	7: 27,306,116	C1533*	probably null	Het
Mapre2	A	G	18: 23,832,933	N25S	probably damaging	Het
Mark3	T	A	12: 111,592,653	I43K	probably benign	Het
Mon1b	T	A	8: 113,641,953	Y495*	probably null	Het
Mrfap1	A	G	5: 36,796,745		probably benign	Het
Mxra8	A	G	4: 155,840,904		probably null	Het
Myoz1	A	T	14: 20,649,538	L244Q	probably damaging	Het
Ndfip2	C	T	14: 105,258,685	R5W	probably benign	Het
Nek11	T	C	9: 105,287,658	D423G	probably benign	Het
Nin	A	T	12: 70,044,063	D859E	probably damaging	Het
Nup210	G	A	6: 91,017,529	A1729V	probably benign	Het
Olfm3	A	G	3: 115,101,940	E157G	probably damaging	Het
Olfr397	A	T	11: 73,965,340	H244L	probably damaging	Het
Prickle1	A	G	15: 93,500,548	S800P	probably benign	Het
Reln	A	G	5: 21,925,193	S2707P	probably benign	Het
Rexo4	G	A	2: 26,962,392	T200M	possibly damaging	Het
Saxo2	T	A	7: 82,634,535	I372L	probably benign	Het
Scgb2b2	T	A	7: 31,303,631	D50E	probably benign	Het
Sipa1l1	T	C	12: 82,396,678	L914P	possibly damaging	Het
Slf1	T	A	13: 77,051,294	D656V	probably damaging	Het
Sorbs1	T	C	19: 40,311,727	D1192G	probably damaging	Het
Tdrd6	A	C	17: 43,624,327	D1943E	probably benign	Het
Tmem163	G	A	1: 127,491,625	T281M	probably damaging	Het
Tmod3	A	G	9: 75,532,448	V35A	probably damaging	Het
Ttc39c	A	T	18: 12,734,894	Q448L	probably benign	Het
Ulk1	A	T	5: 110,787,589	S937T	probably damaging	Het
Unc13c	T	A	9: 73,574,022	D1711V	probably damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Utp20	G	T	10: 88,771,960	Q1596K	probably benign	Het
Vmn1r28	A	T	6: 58,265,540	I123F	possibly damaging	Het
Vmn1r73	T	A	7: 11,756,669	V138E	probably damaging	Het
Vmn2r112	A	G	17: 22,603,382	D347G	probably damaging	Het
Vmn2r3	T	G	3: 64,259,197	T838P	probably damaging	Het
Vps13d	A	T	4: 145,155,857	D1055E	probably benign	Het
Wdr17	T	C	8: 54,629,861	D1268G	probably damaging	Het
Zfp108	T	A	7: 24,261,314	H443Q	probably damaging	Het
Zfp608	A	G	18: 54,946,591	V374A	probably damaging	Het
Zfp831	G	T	2: 174,644,624	G364V	probably damaging	Het
Zfp94	A	G	7: 24,303,741	V86A	probably benign	Het
Zkscan16	A	C	4: 58,946,506	N127T	possibly 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
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'- TGGTGAATAGCACTGTCTTATCTC -3'
(R):5'- ATGCCCCATCATTCTATGAATTGC -3'

Sequencing Primer
(F):5'- GGCTTCCCCTCCTACTGATAGAAATG -3'
(R):5'- TGCAACAGACATCTTATGCAATCAG -3'

Posted On

2016-04-15