Mutagenetix > Incidental Mutation

Incidental Mutation 'R9183:D230025D16Rik'

697185

Institutional Source

Beutler Lab

Gene Symbol

D230025D16Rik

Ensembl Gene

ENSMUSG00000031889

Gene Name

RIKEN cDNA D230025D16 gene

Synonyms

Lin10

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R9183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105225145-105253053 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105231208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 49 (Q49K)

Ref Sequence

ENSEMBL: ENSMUSP00000034361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034361] [ENSMUST00000124113] [ENSMUST00000132964] [ENSMUST00000141957]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034361
AA Change: Q49K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: Q49K

Domain	Start	End	E-Value	Type
Pfam:UPF0183	15	407	1.7e-161	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124113
AA Change: Q49K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119743
Gene: ENSMUSG00000031889
AA Change: Q49K

Domain	Start	End	E-Value	Type
Pfam:UPF0183	13	120	1.9e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132964
AA Change: Q27K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123583
Gene: ENSMUSG00000031889
AA Change: Q27K

Domain	Start	End	E-Value	Type
Pfam:UPF0183	1	117	1.4e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141957
AA Change: Q49K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889
AA Change: Q49K

Domain	Start	End	E-Value	Type
Pfam:UPF0183	13	161	2.8e-65	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,559	C313R	probably damaging	Het
Adap2	A	G	11: 80,155,056	N54S	probably damaging	Het
Adcy8	T	C	15: 64,822,267	D387G	probably damaging	Het
Adgra1	G	A	7: 139,875,800	R448Q	probably benign	Het
Antxr1	A	T	6: 87,287,043	D148E	probably damaging	Het
Ap3d1	A	T	10: 80,709,793	V1034E	probably null	Het
Arpp21	C	T	9: 112,065,998	A731T	probably benign	Het
Asl	T	A	5: 130,013,471	R255W	probably damaging	Het
Asxl1	T	A	2: 153,397,920	S544T	probably damaging	Het
Atp8a1	A	C	5: 67,767,035	Y329D		Het
Calcr	A	T	6: 3,711,463	I186N	probably damaging	Het
Cdh18	T	C	15: 23,226,979		probably null	Het
Celsr3	T	C	9: 108,829,396	L1026P	probably damaging	Het
Ces2a	T	A	8: 104,734,142	V24E	possibly damaging	Het
Clybl	T	C	14: 122,401,975	I317T	probably damaging	Het
Col13a1	T	A	10: 61,863,979	T476S	unknown	Het
Cyp4f15	T	C	17: 32,700,231	S343P	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,192	T263A	probably benign	Het
Fbxo28	A	G	1: 182,329,961	V97A	possibly damaging	Het
Frem2	C	T	3: 53,520,065	V2889I	probably damaging	Het
Garnl3	T	C	2: 33,005,068	E663G	probably damaging	Het
Gen1	T	A	12: 11,249,185	K338M	probably damaging	Het
Gfi1	A	G	5: 107,725,953		probably null	Het
Gfod2	A	G	8: 105,723,021	S95P	probably benign	Het
H2-Bl	T	A	17: 36,081,490	H31L	unknown	Het
Heatr1	A	G	13: 12,421,385	Q1224R	probably damaging	Het
Hectd4	A	G	5: 121,299,488	K1059E	possibly damaging	Het
Hmgcs2	C	T	3: 98,290,916	A45V	possibly damaging	Het
Hnmt	C	A	2: 24,003,643	V280L	probably benign	Het
Ifi35	G	T	11: 101,457,265	V66L	probably benign	Het
Kcnn2	T	C	18: 45,561,312	I188T	probably damaging	Het
Klhl8	C	A	5: 103,864,245	A575S	probably benign	Het
Krt6a	T	C	15: 101,693,011	D225G	probably benign	Het
Lrtm2	T	C	6: 119,317,423	Y249C	probably damaging	Het
Med12l	C	T	3: 59,077,077	R479C	probably damaging	Het
Muc5ac	A	T	7: 141,798,900	Y709F	possibly damaging	Het
Nsd2	G	A	5: 33,871,452	A162T	probably damaging	Het
Olfr768	A	G	10: 129,093,332	M214T	probably benign	Het
Polr2h	T	C	16: 20,720,535	Y90H	possibly damaging	Het
Prkaa1	A	T	15: 5,176,488	E275V	probably damaging	Het
Prss22	C	T	17: 23,994,618	G233E	probably damaging	Het
Rhcg	A	T	7: 79,594,816	L496*	probably null	Het
Rnf213	A	G	11: 119,427,622	E1084G		Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,571,292		probably benign	Het
Slc14a1	T	A	18: 78,111,383	I263F	probably benign	Het
Slc40a1	C	T	1: 45,909,511	M536I	possibly damaging	Het
Slco6c1	T	A	1: 97,069,050		probably null	Het
Stk32a	T	C	18: 43,261,340	F118S	probably damaging	Het
Sytl1	G	T	4: 133,253,623	R467S	possibly damaging	Het
Thbs2	T	C	17: 14,676,264	I788V	probably benign	Het
Tmed6	T	A	8: 107,061,758	R186*	probably null	Het
Trnau1ap	G	A	4: 132,325,254	R78C	probably damaging	Het
Trpv1	A	T	11: 73,244,213	D412V	possibly damaging	Het
Ttc16	C	T	2: 32,757,317	V688M	probably benign	Het
Ubr5	C	A	15: 37,997,176	L1738F		Het
Vmn2r89	A	G	14: 51,455,044	I101M	probably benign	Het
Wdr27	C	T	17: 14,928,389	R114Q	possibly damaging	Het
Wdr48	A	G	9: 119,920,664	H563R	possibly damaging	Het
Wdr49	A	C	3: 75,298,112	S666A	probably benign	Het
Wwox	T	C	8: 114,706,370	S259P	probably damaging	Het
Zfp160	T	A	17: 21,020,092	D12E	possibly damaging	Het
Zfp800	A	G	6: 28,243,173	Y598H	probably benign	Het
Zfp970	T	C	2: 177,475,743	L370P	probably damaging	Het
Zmat5	A	T	11: 4,722,431	D16V	probably damaging	Het

Other mutations in D230025D16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:D230025D16Rik	APN	8	105240001	missense	probably damaging	0.99
IGL02058:D230025D16Rik	APN	8	105239709	missense	probably damaging	1.00
IGL02162:D230025D16Rik	APN	8	105239973	splice site	probably benign
IGL02264:D230025D16Rik	APN	8	105234546	missense	possibly damaging	0.67
IGL02512:D230025D16Rik	APN	8	105234478	splice site	probably benign
FR4340:D230025D16Rik	UTSW	8	105241098	missense	probably benign
FR4342:D230025D16Rik	UTSW	8	105241098	missense	probably benign
FR4589:D230025D16Rik	UTSW	8	105241098	missense	probably benign
R0564:D230025D16Rik	UTSW	8	105239971	splice site	probably benign
R1458:D230025D16Rik	UTSW	8	105246556	critical splice donor site	probably null
R1705:D230025D16Rik	UTSW	8	105238472	splice site	probably benign
R1860:D230025D16Rik	UTSW	8	105240071	missense	probably null	1.00
R1861:D230025D16Rik	UTSW	8	105240071	missense	probably null	1.00
R1893:D230025D16Rik	UTSW	8	105246501	missense	probably damaging	1.00
R1969:D230025D16Rik	UTSW	8	105246500	missense	possibly damaging	0.81
R2246:D230025D16Rik	UTSW	8	105246500	missense	possibly damaging	0.81
R3914:D230025D16Rik	UTSW	8	105239983	missense	probably benign	0.00
R4175:D230025D16Rik	UTSW	8	105241131	missense	probably benign	0.09
R4176:D230025D16Rik	UTSW	8	105241131	missense	probably benign	0.09
R4602:D230025D16Rik	UTSW	8	105246888	missense	possibly damaging	0.72
R5965:D230025D16Rik	UTSW	8	105234539	missense	probably damaging	1.00
R7717:D230025D16Rik	UTSW	8	105251604	missense	probably benign	0.12
R7787:D230025D16Rik	UTSW	8	105231188	missense	probably damaging	1.00
R7881:D230025D16Rik	UTSW	8	105249452	missense	probably benign	0.21
R8168:D230025D16Rik	UTSW	8	105248769	missense	probably benign	0.02
R8949:D230025D16Rik	UTSW	8	105249443	missense	probably benign
Z1088:D230025D16Rik	UTSW	8	105231172	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTTTGAGTGGCCCCTTGG -3'
(R):5'- CCATGTGAAGGGTGAGTAGC -3'

Sequencing Primer
(F):5'- GGTGTCTGCTGTTTAACTTCATC -3'
(R):5'- GGGTGAGTAGCTAAGCACAAC -3'

Posted On

2022-02-07