Mutagenetix > Incidental Mutation

Incidental Mutation 'R6198:1700006A11Rik'

503023

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

044338-MU

Accession Numbers

Essential gene?

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

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 124416850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029598] [ENSMUST00000198630]

AlphaFold

B9EHI3

Predicted Effect

probably null
Transcript: ENSMUST00000029598

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,882,679 (GRCm38)	S265G	probably damaging	Het
2610318N02Rik	A	G	16: 17,118,369 (GRCm38)	S164P	probably damaging	Het
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adam19	A	C	11: 46,121,502 (GRCm38)	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,777,193 (GRCm38)	T84S	possibly damaging	Het
Asl	C	T	5: 130,018,916 (GRCm38)	V70I	probably benign	Het
Atp2c1	A	G	9: 105,521,072 (GRCm38)	S26P	probably benign	Het
Bcas3	A	T	11: 85,509,435 (GRCm38)	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,633,225 (GRCm38)	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,314,285 (GRCm38)		probably null	Het
Cfh	A	G	1: 140,105,440 (GRCm38)	S789P	probably damaging	Het
Cltc	T	C	11: 86,720,362 (GRCm38)	N561S	probably benign	Het
Cnst	A	G	1: 179,592,865 (GRCm38)	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,313,877 (GRCm38)	T422A	probably benign	Het
Cyp2c55	A	T	19: 39,007,121 (GRCm38)	R26*	probably null	Het
Dgkb	A	T	12: 38,173,823 (GRCm38)	M414L	probably benign	Het
Dgkd	A	G	1: 87,924,208 (GRCm38)	D444G	probably damaging	Het
Dnmt3c	T	C	2: 153,720,009 (GRCm38)	V544A	noncoding transcript	Het
Dus3l	A	T	17: 56,767,858 (GRCm38)	T327S	possibly damaging	Het
Elf2	A	T	3: 51,277,249 (GRCm38)	L5Q	probably damaging	Het
Fam69b	A	G	2: 26,635,698 (GRCm38)	K215E	probably damaging	Het
Fxyd6	A	G	9: 45,390,670 (GRCm38)	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,292,590 (GRCm38)	T1375S	probably benign	Het
Git2	A	T	5: 114,745,495 (GRCm38)	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,509,655 (GRCm38)		probably benign	Het
Gm9573	T	A	17: 35,620,916 (GRCm38)		probably benign	Het
Golgb1	T	C	16: 36,893,395 (GRCm38)	L246P	probably damaging	Het
Grp	G	T	18: 65,879,986 (GRCm38)	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,924,082 (GRCm38)	M391K	probably damaging	Het
Itih2	A	G	2: 10,098,541 (GRCm38)	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,438,997 (GRCm38)	V1626E	probably benign	Het
Klhl40	A	G	9: 121,778,767 (GRCm38)	Y331C	probably damaging	Het
Kprp	T	A	3: 92,824,687 (GRCm38)	Y352F	probably damaging	Het
Lama2	G	T	10: 27,188,022 (GRCm38)	H1286Q	probably damaging	Het
Lgi4	T	A	7: 31,069,122 (GRCm38)		probably null	Het
Lrrc47	A	T	4: 154,015,672 (GRCm38)	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,548,786 (GRCm38)	I308F	probably damaging	Het
Map7d1	T	A	4: 126,241,843 (GRCm38)	K135M	probably damaging	Het
March5	A	G	19: 37,210,741 (GRCm38)	R36G	probably damaging	Het
Mtx3	C	A	13: 92,852,851 (GRCm38)	P299Q	probably benign	Het
Ncapd2	C	A	6: 125,179,323 (GRCm38)	E500*	probably null	Het
Nckap5l	T	C	15: 99,425,988 (GRCm38)	K878R	probably damaging	Het
Nphs1	T	C	7: 30,467,915 (GRCm38)	I756T	probably damaging	Het
Olfm4	T	G	14: 80,000,373 (GRCm38)	S17A	probably benign	Het
Olfr1270	A	T	2: 90,149,438 (GRCm38)	D189E	probably damaging	Het
Olfr344	A	G	2: 36,568,951 (GRCm38)	M118V	probably damaging	Het
Pak1ip1	G	T	13: 41,001,410 (GRCm38)	Q27H	probably benign	Het
Piezo2	A	T	18: 63,157,210 (GRCm38)	C159*	probably null	Het
Pkn2	G	T	3: 142,810,404 (GRCm38)	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,247,611 (GRCm38)	M198K	probably benign	Het
Rrm1	T	G	7: 102,446,729 (GRCm38)		probably null	Het
Setd3	T	C	12: 108,165,168 (GRCm38)	K7E	possibly damaging	Het
Shc1	A	G	3: 89,422,107 (GRCm38)	K86R	probably benign	Het
Slc16a7	T	C	10: 125,228,215 (GRCm38)	T418A	probably benign	Het
Spocd1	C	T	4: 129,955,415 (GRCm38)	P676S	probably damaging	Het
Spp1	A	G	5: 104,439,508 (GRCm38)		probably null	Het
Syne1	A	G	10: 5,302,269 (GRCm38)	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,414,121 (GRCm38)	S42P	probably benign	Het
Tmem63b	C	T	17: 45,661,516 (GRCm38)	V722I	probably benign	Het
Ubqln1	A	G	13: 58,196,590 (GRCm38)	S130P	probably benign	Het
Usp34	G	T	11: 23,484,127 (GRCm38)	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,409,510 (GRCm38)	Y517C	probably damaging	Het
Vps13d	A	T	4: 145,148,990 (GRCm38)	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,657,153 (GRCm38)	S405P	probably damaging	Het
Zfp9	T	C	6: 118,477,321 (GRCm38)	M1V	probably null	Het
Zfp946	A	T	17: 22,454,915 (GRCm38)	S217C	probably damaging	Het
Zfp970	T	A	2: 177,475,460 (GRCm38)	C276S	probably damaging	Het
Zswim5	T	A	4: 116,878,007 (GRCm38)	F183Y	probably benign	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
R2509:1700006A11Rik	UTSW	3	124,406,453 (GRCm38)	missense	probably benign	0.44
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
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'- CTAAGCTAACCCCAAGTTACTGGTG -3'
(R):5'- GGATGGAAAATTGCAGGTCCC -3'

Sequencing Primer
(F):5'- GCATGATATATTGTGACTGCTGAAAG -3'
(R):5'- GGAAAATTGCAGGTCCCTTTAG -3'

Posted On

2018-02-27