Mutagenetix > Incidental Mutations

Incidental Mutation 'R8168:D230025D16Rik'

633908

Institutional Source

Beutler Lab

Gene Symbol

D230025D16Rik

Ensembl Gene

ENSMUSG00000031889

Gene Name

RIKEN cDNA D230025D16 gene

Synonyms

Lin10

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R8168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105225145-105253053 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105248769 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 330 (P330L)

Ref Sequence

ENSEMBL: ENSMUSP00000034361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034361] [ENSMUST00000093217] [ENSMUST00000124113] [ENSMUST00000136822] [ENSMUST00000141957]

Predicted Effect

probably benign
Transcript: ENSMUST00000034361
AA Change: P330L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: P330L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000093217

SMART Domains

Protein: ENSMUSP00000133023
Gene: ENSMUSG00000069920

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
Pfam:Galactosyl_T	132	331	1e-40	PFAM
Pfam:Fringe	212	335	3.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124113

SMART Domains

Protein: ENSMUSP00000119743
Gene: ENSMUSG00000031889

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136822

SMART Domains

Protein: ENSMUSP00000130840
Gene: ENSMUSG00000069920

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
Pfam:Galactosyl_T	132	331	1e-40	PFAM
Pfam:Fringe	212	335	3.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141957

SMART Domains

Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	A	10: 77,982,944	A150T	probably benign	Het
9430020K01Rik	A	T	18: 4,675,094	D952V	probably benign	Het
AI607873	A	C	1: 173,729,938	S411R	probably benign	Het
Ano4	A	G	10: 88,980,995	I652T	probably damaging	Het
Arhgef1	A	G	7: 24,925,406	T862A	probably benign	Het
Atp6v1b2	T	C	8: 69,108,331	S404P	possibly damaging	Het
Cfap54	A	T	10: 92,908,877	S2170T	unknown	Het
Copa	A	T	1: 172,099,672	H204L	probably damaging	Het
Cwc22	A	C	2: 77,927,271	V171G	probably damaging	Het
Dock5	A	T	14: 67,770,197		probably null	Het
Flrt1	G	A	19: 7,096,637	L182F	probably damaging	Het
Foxf1	T	C	8: 121,085,162	V255A	probably damaging	Het
Gnptab	G	T	10: 88,419,133	A194S	probably benign	Het
Gzf1	C	T	2: 148,684,766	R386C	probably damaging	Het
H2-Aa	T	A	17: 34,287,721	T16S	possibly damaging	Het
Hdgfrp2	T	C	17: 56,082,282	F52S	probably damaging	Het
Htt	A	G	5: 34,882,956	N2154S	probably benign	Het
Lama3	T	A	18: 12,506,942	W65R	probably null	Het
Mef2c	G	T	13: 83,656,350	L356F	probably damaging	Het
Mrgprb2	A	T	7: 48,552,019	S319R	probably benign	Het
Mtrr	C	T	13: 68,572,613	V288I	probably benign	Het
Myo18a	T	A	11: 77,821,142	I713N	probably damaging	Het
Nelfa	A	T	5: 33,921,907	N107K	possibly damaging	Het
Nim1k	A	T	13: 119,712,752	V202D	probably damaging	Het
Nlrc4	T	C	17: 74,445,211	T726A	probably benign	Het
Olfr1154	T	A	2: 87,903,199	H159L	probably damaging	Het
Olfr1208	T	A	2: 88,896,776	M274L	probably benign	Het
Prdm10	G	A	9: 31,346,967	A514T	probably benign	Het
Prg4	T	A	1: 150,455,850	E357D	unknown	Het
Ptp4a3	T	G	15: 73,756,846	Y152D	probably damaging	Het
Raph1	A	G	1: 60,499,620	C389R	unknown	Het
Rcc1	T	C	4: 132,335,785	E170G	probably benign	Het
Spag17	C	T	3: 100,034,984	T775M	possibly damaging	Het
Srcap	T	A	7: 127,542,523	V1825D	probably damaging	Het
Tex40	A	G	19: 6,922,652	S162P	possibly damaging	Het
Tshr	T	A	12: 91,511,965	H195Q	probably benign	Het
Vmn1r174	A	T	7: 23,754,671	D254V	probably damaging	Het
Vps13a	A	C	19: 16,749,548	I244M	probably benign	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
Z1088:D230025D16Rik	UTSW	8	105231172	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCCAGTGAATGTTGTGAAAG -3'
(R):5'- CACTACACTTGGCTGGCTTC -3'

Sequencing Primer
(F):5'- CCCAGTGAATGTTGTGAAAGATCCC -3'
(R):5'- GGGCATCAGCTCTCATTACAGATG -3'

Posted On

2020-07-13