Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:1700030K09Rik'

506119

Institutional Source

Beutler Lab

Gene Symbol

1700030K09Rik

Ensembl Gene

ENSMUSG00000052794

Gene Name

RIKEN cDNA 1700030K09 gene

Synonyms

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72443880-72461001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72451428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 361 (Q361L)

Ref Sequence

ENSEMBL: ENSMUSP00000063244 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064853
AA Change: Q361L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: Q361L

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

possibly damaging
Transcript: ENSMUST00000121902
AA Change: Q361L

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: Q361L

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in 1700030K09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:1700030K09Rik	APN	8	72455349	missense	probably damaging	1.00
IGL01010:1700030K09Rik	APN	8	72445215	missense	probably damaging	0.98
IGL01449:1700030K09Rik	APN	8	72444849	missense	probably benign	0.10
IGL01714:1700030K09Rik	APN	8	72455569	critical splice donor site	probably null
IGL03256:1700030K09Rik	APN	8	72445199	missense	probably benign	0.01
IGL03275:1700030K09Rik	APN	8	72445124	missense	probably damaging	1.00
R0417:1700030K09Rik	UTSW	8	72445400	missense	probably damaging	0.97
R0501:1700030K09Rik	UTSW	8	72455372	missense	probably benign	0.01
R1444:1700030K09Rik	UTSW	8	72451386	missense	probably damaging	1.00
R1556:1700030K09Rik	UTSW	8	72449633	missense	probably damaging	1.00
R2153:1700030K09Rik	UTSW	8	72455115	missense	probably benign	0.01
R2154:1700030K09Rik	UTSW	8	72455115	missense	probably benign	0.01
R2298:1700030K09Rik	UTSW	8	72455403	missense	probably benign	0.08
R3743:1700030K09Rik	UTSW	8	72445169	missense	probably benign	0.41
R4787:1700030K09Rik	UTSW	8	72445164	nonsense	probably null
R4860:1700030K09Rik	UTSW	8	72455423	missense	possibly damaging	0.87
R4860:1700030K09Rik	UTSW	8	72455423	missense	possibly damaging	0.87
R4994:1700030K09Rik	UTSW	8	72455118	missense	probably benign	0.02
R5857:1700030K09Rik	UTSW	8	72449525	missense	probably benign	0.04
R7129:1700030K09Rik	UTSW	8	72455355	missense	probably damaging	1.00
R7366:1700030K09Rik	UTSW	8	72449459	missense	possibly damaging	0.65
R7923:1700030K09Rik	UTSW	8	72444911	missense	probably damaging	1.00
R8322:1700030K09Rik	UTSW	8	72445375	missense	probably benign	0.32
R9109:1700030K09Rik	UTSW	8	72445079	missense	probably benign	0.01
R9298:1700030K09Rik	UTSW	8	72445079	missense	probably benign	0.01
R9409:1700030K09Rik	UTSW	8	72458044	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATGTGAAGGGAGCCCATGTC -3'
(R):5'- CCCACAGACACAATGAGTACATGTG -3'

Sequencing Primer
(F):5'- CCCCCTTAATCATGGGATGTTAAGG -3'
(R):5'- CACAATGAGTACATGTGTGCGG -3'

Posted On

2018-02-28