Mutagenetix > Incidental Mutation

Incidental Mutation 'R7773:1700006A11Rik'

598693

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 #

R7773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124412531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 336 (I336T)

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: I336T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: I336T

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,613,187	Y84C	unknown	Het
4930568D16Rik	C	T	2: 35,354,594	G249S	probably damaging	Het
4933425L06Rik	A	G	13: 105,082,285	I42M	probably damaging	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Agbl1	T	A	7: 76,698,837	V894E	unknown	Het
Amigo3	T	C	9: 108,054,668	L430P	probably benign	Het
Aoc1	A	G	6: 48,906,212	I341V	probably benign	Het
Bod1l	A	G	5: 41,832,712	S223P	probably benign	Het
Cacnb3	T	C	15: 98,639,938		probably null	Het
Ccdc63	G	T	5: 122,109,272	N503K	probably damaging	Het
Ccdc83	T	A	7: 90,229,912	I225F	probably damaging	Het
Cd200r1	A	G	16: 44,789,687	T90A	possibly damaging	Het
Cd8a	A	G	6: 71,373,815	N88S	probably benign	Het
Cep170	A	G	1: 176,740,076	V152A		Het
Chid1	T	C	7: 141,529,605	M123V	probably benign	Het
Cnnm4	T	C	1: 36,499,522	V595A	probably benign	Het
Coro7	A	G	16: 4,632,006	L630P	probably damaging	Het
Cpvl	A	G	6: 53,931,905		probably null	Het
Edem3	A	T	1: 151,811,596	K762*	probably null	Het
Elp6	T	A	9: 110,312,559		probably null	Het
Emilin3	A	T	2: 160,910,798	Y77*	probably null	Het
Fam234b	T	A	6: 135,243,914	I641N	probably benign	Het
Farsa	T	C	8: 84,864,152		probably null	Het
Foxf2	T	C	13: 31,627,199	S374P	probably benign	Het
Gm11596	A	T	11: 99,792,841	I151N	unknown	Het
Gm13178	A	T	4: 144,703,477	L314Q	probably damaging	Het
Gm853	T	C	4: 130,220,376	N83D	probably damaging	Het
Gm9817	C	T	13: 45,078,951	Q77*	probably null	Het
Gon4l	A	G	3: 88,895,795	K1238E	probably benign	Het
H13	A	G	2: 152,695,511	Y292C	probably damaging	Het
Hip1r	A	G	5: 124,001,441	N928S	probably benign	Het
Iqcf4	T	C	9: 106,568,613	N112D	probably benign	Het
Jak3	A	C	8: 71,679,042	T125P	probably benign	Het
Krt7	A	C	15: 101,414,032	K124Q	possibly damaging	Het
Lrrc66	G	A	5: 73,607,321	S793F	probably damaging	Het
Mycbp2	C	T	14: 103,248,404	V1074I	probably damaging	Het
Nckap5	T	C	1: 126,026,844	D657G	probably benign	Het
Olfr1053	T	C	2: 86,314,690	I199V	probably benign	Het
Olfr1467	T	A	19: 13,365,234	V202E	probably benign	Het
Osbpl7	A	G	11: 97,050,722	S24G	probably benign	Het
Pcm1	G	T	8: 41,309,573	E1385*	probably null	Het
Poc5	A	G	13: 96,410,635	T469A	probably damaging	Het
Ppp3ca	A	G	3: 136,890,461	T296A	probably benign	Het
Prl6a1	T	C	13: 27,318,142	I164T	probably damaging	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882		probably null	Het
Rnf149	A	C	1: 39,565,218	M188R	possibly damaging	Het
Rpl10l	T	C	12: 66,284,267	I31V	probably benign	Het
Serinc5	T	C	13: 92,661,084	S32P	probably damaging	Het
Sirt1	T	A	10: 63,326,783	K137M	possibly damaging	Het
Smc4	A	G	3: 69,016,163	Y251C	probably damaging	Het
Sod3	A	C	5: 52,368,301	E114A	possibly damaging	Het
Tgfbr3	A	G	5: 107,140,502	V431A	probably benign	Het
Tlr4	T	C	4: 66,839,599	S210P	probably damaging	Het
Trub2	G	T	2: 29,786,508	T70N	probably benign	Het
Tsga10	A	T	1: 37,835,242	C159S	unknown	Het
Vmn1r15	A	T	6: 57,258,659	I171F	probably benign	Het
Vmn2r50	T	A	7: 10,037,635	H713L	possibly damaging	Het
Zcchc14	T	C	8: 121,651,775	S43G	unknown	Het
Zfp638	T	C	6: 83,979,214	I1601T	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
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
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'- TGGTAACAGAACTGAGTGTGAACAC -3'
(R):5'- ACCTATGTTCAGGATTTCAGGG -3'

Sequencing Primer
(F):5'- TGGTACACAAAAGCTATAGAAAACC -3'
(R):5'- GTTCAGGATTTCAGGGAGAATAATC -3'

Posted On

2019-11-26