Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:1700006A11Rik'

205581

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124194639-124219688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124203369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 403 (T403A)

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

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

AlphaFold

B9EHI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029598
AA Change: T403A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: T403A

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	T	A	17: 13,147,493 (GRCm39)	R175*	probably null	Het
Adam1b	C	A	5: 121,639,104 (GRCm39)	C647F	probably damaging	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,837,380 (GRCm39)		probably null	Het
Adcy5	A	T	16: 35,069,310 (GRCm39)	N426I	probably damaging	Het
Adgre1	T	C	17: 57,748,299 (GRCm39)	S500P	probably benign	Het
Aloxe3	A	G	11: 69,020,911 (GRCm39)	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,562,942 (GRCm39)	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,760,626 (GRCm39)	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,203,702 (GRCm39)	A757S	possibly damaging	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,831,477 (GRCm39)		probably benign	Het
Ccnk	A	G	12: 108,161,333 (GRCm39)	T195A	probably damaging	Het
Cd55b	C	A	1: 130,341,842 (GRCm39)	C265F	probably damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Cenpt	T	C	8: 106,575,646 (GRCm39)	S190G	possibly damaging	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Cxxc4	C	A	3: 133,946,414 (GRCm39)	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,338,661 (GRCm39)	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,318,111 (GRCm39)	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,440,837 (GRCm39)	I47V	probably benign	Het
Ddx5	A	T	11: 106,675,723 (GRCm39)	D322E	probably benign	Het
Dhx40	A	G	11: 86,680,123 (GRCm39)	C405R	possibly damaging	Het
Emc1	T	C	4: 139,087,796 (GRCm39)	F100S	probably damaging	Het
Exoc2	T	C	13: 31,090,480 (GRCm39)		probably benign	Het
Gm10110	A	T	14: 90,135,272 (GRCm39)		noncoding transcript	Het
Gm17332	T	C	11: 31,132,386 (GRCm39)	H26R	possibly damaging	Het
Gna12	T	C	5: 140,748,367 (GRCm39)	N183S	probably benign	Het
Gpx6	A	G	13: 21,496,497 (GRCm39)	N24D	probably benign	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,527,044 (GRCm39)	Y134C	probably benign	Het
Ifi213	T	C	1: 173,417,166 (GRCm39)	I415M	probably damaging	Het
Ints9	C	A	14: 65,253,979 (GRCm39)	P278T	probably damaging	Het
Krt79	C	T	15: 101,846,373 (GRCm39)	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,567,337 (GRCm39)	N132S	probably benign	Het
Ltn1	T	A	16: 87,213,152 (GRCm39)	K470*	probably null	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Mcm9	A	G	10: 53,417,649 (GRCm39)	M18T	probably damaging	Het
Med12l	A	G	3: 58,975,740 (GRCm39)	T212A	probably benign	Het
Mfhas1	T	C	8: 36,058,012 (GRCm39)	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,121,407 (GRCm39)	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Nme4	A	T	17: 26,311,071 (GRCm39)	W165R	probably damaging	Het
Nup205	T	A	6: 35,196,649 (GRCm39)	D1128E	probably benign	Het
Or2t48	A	T	11: 58,420,199 (GRCm39)	Y204*	probably null	Het
Or5ae2	T	C	7: 84,505,756 (GRCm39)	Y60H	probably damaging	Het
Pcdh1	T	C	18: 38,332,538 (GRCm39)	D155G	possibly damaging	Het
Pex12	A	T	11: 83,188,648 (GRCm39)	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,125,731 (GRCm39)		probably benign	Het
Plekhh3	A	G	11: 101,054,426 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,104,342 (GRCm39)	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,765,719 (GRCm39)	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rgs14	T	C	13: 55,530,651 (GRCm39)		probably benign	Het
Rhbdf2	A	T	11: 116,491,017 (GRCm39)	V645E	possibly damaging	Het
Robo3	A	G	9: 37,333,623 (GRCm39)	V696A	probably benign	Het
Sall1	A	G	8: 89,755,344 (GRCm39)	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,270,932 (GRCm39)	E109G	probably benign	Het
Serpind1	G	T	16: 17,160,856 (GRCm39)	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,696,600 (GRCm39)		probably benign	Het
Sstr4	C	A	2: 148,237,453 (GRCm39)	N21K	probably benign	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Thap4	T	C	1: 93,678,009 (GRCm39)	E259G	probably benign	Het
Thra	A	G	11: 98,646,969 (GRCm39)	N30S	probably benign	Het
Tmem207	A	T	16: 26,343,571 (GRCm39)	V27E	possibly damaging	Het
Top3a	A	G	11: 60,644,714 (GRCm39)	V305A	probably damaging	Het
Trim59	A	T	3: 68,944,971 (GRCm39)	I123K	probably damaging	Het
Ttn	T	C	2: 76,691,839 (GRCm39)		probably benign	Het
Ubac1	T	A	2: 25,897,750 (GRCm39)	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308 (GRCm39)		probably benign	Het
Uri1	A	T	7: 37,666,814 (GRCm39)	D206E	probably benign	Het
Utp4	A	G	8: 107,640,086 (GRCm39)	H465R	probably benign	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,782,217 (GRCm39)		probably null	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Vps72	G	A	3: 95,026,529 (GRCm39)	R158Q	possibly damaging	Het
Wdr59	T	C	8: 112,211,972 (GRCm39)	D366G	probably benign	Het
Zfp366	C	A	13: 99,365,000 (GRCm39)	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	Het

Other mutations in 1700006A11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:1700006A11Rik	APN	3	124,195,058 (GRCm39)	missense	probably benign	0.30
IGL02552:1700006A11Rik	APN	3	124,208,145 (GRCm39)	missense	probably damaging	1.00
IGL03092:1700006A11Rik	APN	3	124,200,119 (GRCm39)	missense	probably damaging	1.00
R0094:1700006A11Rik	UTSW	3	124,203,427 (GRCm39)	splice site	probably benign
R0097:1700006A11Rik	UTSW	3	124,206,129 (GRCm39)	missense	probably benign	0.13
R0097:1700006A11Rik	UTSW	3	124,206,129 (GRCm39)	missense	probably benign	0.13
R0184:1700006A11Rik	UTSW	3	124,212,899 (GRCm39)	missense	probably damaging	1.00
R0361:1700006A11Rik	UTSW	3	124,207,283 (GRCm39)	missense	possibly damaging	0.69
R1542:1700006A11Rik	UTSW	3	124,208,055 (GRCm39)	missense	possibly damaging	0.95
R1549:1700006A11Rik	UTSW	3	124,210,441 (GRCm39)	missense	probably benign	0.00
R1779:1700006A11Rik	UTSW	3	124,200,163 (GRCm39)	missense	probably damaging	0.99
R1986:1700006A11Rik	UTSW	3	124,212,977 (GRCm39)	missense	probably damaging	0.99
R2042:1700006A11Rik	UTSW	3	124,210,377 (GRCm39)	splice site	probably benign
R2149:1700006A11Rik	UTSW	3	124,203,335 (GRCm39)	missense	probably benign	0.33
R2258:1700006A11Rik	UTSW	3	124,207,267 (GRCm39)	missense	possibly damaging	0.84
R2291:1700006A11Rik	UTSW	3	124,207,450 (GRCm39)	missense	probably damaging	1.00
R2509:1700006A11Rik	UTSW	3	124,200,102 (GRCm39)	missense	probably benign	0.44
R4912:1700006A11Rik	UTSW	3	124,213,505 (GRCm39)	missense	possibly damaging	0.68
R5074:1700006A11Rik	UTSW	3	124,210,482 (GRCm39)	missense	probably benign	0.01
R5303:1700006A11Rik	UTSW	3	124,199,999 (GRCm39)	missense	probably damaging	1.00
R5307:1700006A11Rik	UTSW	3	124,199,999 (GRCm39)	missense	probably damaging	1.00
R5308:1700006A11Rik	UTSW	3	124,199,999 (GRCm39)	missense	probably damaging	1.00
R5796:1700006A11Rik	UTSW	3	124,215,077 (GRCm39)	missense	possibly damaging	0.66
R6018:1700006A11Rik	UTSW	3	124,210,448 (GRCm39)	missense	probably damaging	1.00
R6198:1700006A11Rik	UTSW	3	124,210,499 (GRCm39)	splice site	probably null
R6504:1700006A11Rik	UTSW	3	124,213,569 (GRCm39)	missense	probably benign
R7124:1700006A11Rik	UTSW	3	124,208,042 (GRCm39)	missense	probably benign	0.04
R7248:1700006A11Rik	UTSW	3	124,207,959 (GRCm39)	critical splice donor site	probably null
R7351:1700006A11Rik	UTSW	3	124,206,159 (GRCm39)	missense	probably damaging	1.00
R7709:1700006A11Rik	UTSW	3	124,201,334 (GRCm39)	missense	probably damaging	1.00
R7773:1700006A11Rik	UTSW	3	124,206,180 (GRCm39)	missense	probably benign	0.00
R8193:1700006A11Rik	UTSW	3	124,213,517 (GRCm39)	missense	possibly damaging	0.84
R8201:1700006A11Rik	UTSW	3	124,195,046 (GRCm39)	missense	probably benign	0.00
R9157:1700006A11Rik	UTSW	3	124,207,220 (GRCm39)	missense	probably benign	0.22
R9313:1700006A11Rik	UTSW	3	124,207,220 (GRCm39)	missense	probably benign	0.22
R9585:1700006A11Rik	UTSW	3	124,199,993 (GRCm39)	missense	possibly damaging	0.73
R9683:1700006A11Rik	UTSW	3	124,200,095 (GRCm39)	missense	probably benign	0.01
R9721:1700006A11Rik	UTSW	3	124,212,932 (GRCm39)	missense	probably benign	0.00
X0063:1700006A11Rik	UTSW	3	124,213,511 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGAGATGTTAACCTCTCATGAC -3'
(R):5'- TCCCTCCAGTGTTTAAAATTGGG -3'

Sequencing Primer
(F):5'- TGATGATTCACACACACTGTCAG -3'
(R):5'- ATGGTTGCCAATGCTCTG -3'

Posted On

2014-06-23