Mutagenetix > Incidental Mutation

Incidental Mutation 'R5857:1700030K09Rik'

454962

Institutional Source

Beutler Lab

Gene Symbol

1700030K09Rik

Ensembl Gene

ENSMUSG00000052794

Gene Name

RIKEN cDNA 1700030K09 gene

Synonyms

MMRRC Submission

044069-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73197724-73214385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73203369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 266 (I266V)

Ref Sequence

ENSEMBL: ENSMUSP00000113279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064853] [ENSMUST00000121902]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064853
AA Change: I266V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: I266V

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	421	432	N/A	INTRINSIC
Pfam:DUF4614	438	608	2e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121902
AA Change: I266V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: I266V

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
Pfam:DUF4614	400	575	1.3e-75	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks6	C	T	4: 47,039,736 (GRCm39)	A492T	possibly damaging	Het
Ano1	A	T	7: 144,190,840 (GRCm39)	C415S	probably benign	Het
Anxa3	T	A	5: 96,976,651 (GRCm39)		probably null	Het
Apob	T	C	12: 8,065,397 (GRCm39)	V4089A	probably benign	Het
Arhgap23	C	T	11: 97,342,405 (GRCm39)	A229V	possibly damaging	Het
Atad5	T	C	11: 80,022,155 (GRCm39)	F1447L	probably benign	Het
Btbd8	T	A	5: 107,609,398 (GRCm39)	D212E	probably damaging	Het
Ccdc38	G	T	10: 93,398,695 (GRCm39)	A58S	possibly damaging	Het
Cep112	T	C	11: 108,422,297 (GRCm39)		probably benign	Het
Col4a2	G	A	8: 11,475,442 (GRCm39)	G622D	probably damaging	Het
Crhbp	T	A	13: 95,578,740 (GRCm39)	Q134L	probably benign	Het
Ctnnbl1	T	C	2: 157,631,018 (GRCm39)	S145P	probably damaging	Het
Cyp4f16	T	A	17: 32,755,998 (GRCm39)	L9Q	probably damaging	Het
Dchs2	T	G	3: 83,177,620 (GRCm39)	I891S	possibly damaging	Het
Disp3	A	T	4: 148,333,640 (GRCm39)	V1066D	probably benign	Het
Dlgap1	A	G	17: 71,122,388 (GRCm39)		probably benign	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,412,397 (GRCm39)	C929S	probably benign	Het
Gatb	T	C	3: 85,483,239 (GRCm39)	F82S	probably damaging	Het
Gk5	C	A	9: 96,001,508 (GRCm39)	S2*	probably null	Het
Gpr135	G	A	12: 72,117,614 (GRCm39)	A51V	probably benign	Het
Hoxa9	T	A	6: 52,201,277 (GRCm39)	N255Y	probably damaging	Het
Igkv8-18	T	C	6: 70,332,904 (GRCm39)	V15A	probably benign	Het
Ism2	T	C	12: 87,326,835 (GRCm39)	D368G	probably damaging	Het
Krtap6-2	A	T	16: 89,216,530 (GRCm39)	S146T	unknown	Het
Lama1	T	A	17: 68,114,838 (GRCm39)	L2329H	probably damaging	Het
Llgl2	T	A	11: 115,741,107 (GRCm39)	I507N	probably damaging	Het
Lmna	GCTGCCCACAC	GC	3: 88,389,838 (GRCm39)		probably benign	Het
Lrfn3	A	T	7: 30,058,863 (GRCm39)	I454N	possibly damaging	Het
Mdn1	C	A	4: 32,670,646 (GRCm39)	T437K	probably benign	Het
Nat8f3	T	C	6: 85,738,735 (GRCm39)	Y9C	probably damaging	Het
Niban2	T	A	2: 32,799,920 (GRCm39)	N82K	probably benign	Het
Nlrp4d	C	A	7: 10,116,304 (GRCm39)	G156V	noncoding transcript	Het
Npnt	A	T	3: 132,614,110 (GRCm39)	C167S	probably damaging	Het
Nr3c2	A	G	8: 77,635,496 (GRCm39)	N199S	possibly damaging	Het
Or10x4	T	G	1: 174,218,674 (GRCm39)	I13R	possibly damaging	Het
Or8b12i	C	T	9: 20,082,535 (GRCm39)	D111N	probably damaging	Het
Or8b37	T	G	9: 37,959,049 (GRCm39)	V177G	probably benign	Het
Pabpc1l	T	A	2: 163,886,175 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,176,848 (GRCm39)	I366T	probably benign	Het
Prl7a1	A	T	13: 27,824,684 (GRCm39)	D50E	probably damaging	Het
Rad52	T	G	6: 119,887,968 (GRCm39)		probably null	Het
Rbm19	T	A	5: 120,271,007 (GRCm39)	L610Q	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Scube1	G	T	15: 83,491,461 (GRCm39)		probably benign	Het
Sptbn4	G	T	7: 27,118,138 (GRCm39)	R314S	possibly damaging	Het
Togaram1	T	A	12: 65,042,331 (GRCm39)	I1130K	possibly damaging	Het
Tsc2	T	C	17: 24,818,981 (GRCm39)	E1352G	probably damaging	Het
Ube2d2a	A	G	18: 35,938,596 (GRCm39)	T142A	probably benign	Het
Vps18	T	C	2: 119,128,014 (GRCm39)	Y946H	probably damaging	Het

Other mutations in 1700030K09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:1700030K09Rik	APN	8	73,209,193 (GRCm39)	missense	probably damaging	1.00
IGL01010:1700030K09Rik	APN	8	73,199,059 (GRCm39)	missense	probably damaging	0.98
IGL01449:1700030K09Rik	APN	8	73,198,693 (GRCm39)	missense	probably benign	0.10
IGL01714:1700030K09Rik	APN	8	73,209,413 (GRCm39)	critical splice donor site	probably null
IGL03256:1700030K09Rik	APN	8	73,199,043 (GRCm39)	missense	probably benign	0.01
IGL03275:1700030K09Rik	APN	8	73,198,968 (GRCm39)	missense	probably damaging	1.00
R0417:1700030K09Rik	UTSW	8	73,199,244 (GRCm39)	missense	probably damaging	0.97
R0501:1700030K09Rik	UTSW	8	73,209,216 (GRCm39)	missense	probably benign	0.01
R1444:1700030K09Rik	UTSW	8	73,205,230 (GRCm39)	missense	probably damaging	1.00
R1556:1700030K09Rik	UTSW	8	73,203,477 (GRCm39)	missense	probably damaging	1.00
R2153:1700030K09Rik	UTSW	8	73,208,959 (GRCm39)	missense	probably benign	0.01
R2154:1700030K09Rik	UTSW	8	73,208,959 (GRCm39)	missense	probably benign	0.01
R2298:1700030K09Rik	UTSW	8	73,209,247 (GRCm39)	missense	probably benign	0.08
R3743:1700030K09Rik	UTSW	8	73,199,013 (GRCm39)	missense	probably benign	0.41
R4787:1700030K09Rik	UTSW	8	73,199,008 (GRCm39)	nonsense	probably null
R4860:1700030K09Rik	UTSW	8	73,209,267 (GRCm39)	missense	possibly damaging	0.87
R4860:1700030K09Rik	UTSW	8	73,209,267 (GRCm39)	missense	possibly damaging	0.87
R4994:1700030K09Rik	UTSW	8	73,208,962 (GRCm39)	missense	probably benign	0.02
R6256:1700030K09Rik	UTSW	8	73,205,272 (GRCm39)	missense	probably damaging	1.00
R7129:1700030K09Rik	UTSW	8	73,209,199 (GRCm39)	missense	probably damaging	1.00
R7366:1700030K09Rik	UTSW	8	73,203,303 (GRCm39)	missense	possibly damaging	0.65
R7923:1700030K09Rik	UTSW	8	73,198,755 (GRCm39)	missense	probably damaging	1.00
R8322:1700030K09Rik	UTSW	8	73,199,219 (GRCm39)	missense	probably benign	0.32
R9109:1700030K09Rik	UTSW	8	73,198,923 (GRCm39)	missense	probably benign	0.01
R9298:1700030K09Rik	UTSW	8	73,198,923 (GRCm39)	missense	probably benign	0.01
R9409:1700030K09Rik	UTSW	8	73,211,888 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GTGGCAAACACTTTCGCTC -3'
(R):5'- CAGCTTCTGAGACTGGTTCCTC -3'

Sequencing Primer
(F):5'- GCAAACACTTTCGCTCCCTCAG -3'
(R):5'- TCTGAGACTGGTTCCTCAGAAGAC -3'

Posted On

2017-02-10