Mutagenetix > Incidental Mutation

Incidental Mutation 'R4175:D230025D16Rik'

318264

Institutional Source

Beutler Lab

Gene Symbol

D230025D16Rik

Ensembl Gene

ENSMUSG00000031889

Gene Name

RIKEN cDNA D230025D16 gene

Synonyms

Lin10

MMRRC Submission

041013-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R4175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105225145-105253053 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105241131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 218 (L218P)

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: L218P

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: L218P

Domain	Start	End	E-Value	Type
Pfam:UPF0183	15	407	1.7e-161	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: ENSMUST00000132964

SMART Domains

Protein: ENSMUSP00000123583
Gene: ENSMUSG00000031889

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156561

Meta Mutation Damage Score

0.5600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd63	T	C	2: 118,702,619	M274V	probably benign	Het
Ano6	A	T	15: 95,962,169	D724V	probably damaging	Het
Apobec3	A	G	15: 79,895,452	N43S	probably damaging	Het
Arfgef1	T	C	1: 10,159,636	H1280R	probably damaging	Het
Cbfa2t3	C	T	8: 122,643,318	V139M	probably damaging	Het
Cd200r3	T	A	16: 44,954,189	D188E	probably benign	Het
Clmp	A	T	9: 40,771,136	N72I	probably benign	Het
Col11a1	A	C	3: 114,208,223	D432A	possibly damaging	Het
Creb3l1	A	G	2: 91,983,175	F506L	probably benign	Het
Ctbp1	A	G	5: 33,266,906	S47P	probably damaging	Het
Dus1l	G	A	11: 120,795,680	R12C	possibly damaging	Het
Elp5	T	C	11: 69,970,562	Q197R	probably null	Het
Epb41l4b	A	G	4: 57,076,556	V326A	probably damaging	Het
Fhdc1	T	C	3: 84,456,987		probably benign	Het
Gm27013	T	A	6: 130,677,147	T451S	probably benign	Het
Ifi208	A	T	1: 173,682,701	M141L	probably benign	Het
Inpp5e	A	G	2: 26,400,925	S377P	probably damaging	Het
Kat2a	A	G	11: 100,705,266	L822P	probably damaging	Het
Kcnip2	G	C	19: 45,812,215	T24S	probably benign	Het
Med17	A	G	9: 15,267,469	Y469H	possibly damaging	Het
Mindy3	C	T	2: 12,405,865	C77Y	probably damaging	Het
Mmp1a	A	G	9: 7,467,235	T271A	probably benign	Het
Ncor2	A	T	5: 125,050,956	S118T	probably damaging	Het
Olfr994	A	T	2: 85,430,618	D70E	probably damaging	Het
Osmr	A	T	15: 6,852,546	V39D	probably damaging	Het
Pcdh15	G	A	10: 74,631,997		probably benign	Het
Pclo	A	G	5: 14,713,875	K836E	probably damaging	Het
Pik3r1	A	T	13: 101,701,732	L272H	probably damaging	Het
Pik3r1	G	A	13: 101,701,733	L272F	probably benign	Het
Prrc2b	G	GCT	2: 32,218,808		probably benign	Het
Ptprq	T	G	10: 107,711,917	I207L	probably benign	Het
Rasa2	G	T	9: 96,560,777	T531K	probably benign	Het
Six4	G	A	12: 73,108,831	T454I	probably damaging	Het
Slc26a6	G	A	9: 108,854,217		probably benign	Het
Slc7a13	G	A	4: 19,819,492	G231R	probably null	Het
Slco3a1	T	A	7: 74,318,554	N473Y	probably damaging	Het
Tapt1	G	A	5: 44,177,105	L515F	probably benign	Het
Tmem145	T	C	7: 25,308,793	I253T	probably benign	Het
Trip11	G	A	12: 101,895,698	Q203*	probably null	Het
Unc13a	A	G	8: 71,667,724		probably benign	Het
Usp24	T	C	4: 106,316,773	V101A	probably benign	Het
Zfp36l3	T	C	X: 53,775,873	T125A	possibly 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
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
R9183:D230025D16Rik	UTSW	8	105231208	missense	probably benign	0.01
Z1088:D230025D16Rik	UTSW	8	105231172	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAGGAACATGAGCTTTGTAC -3'
(R):5'- TGAAGGTACTAGAAGCTCTGCC -3'

Sequencing Primer
(F):5'- GAACATGAGCTTTGTACTAGGCCC -3'
(R):5'- AAGGTACTAGAAGCTCTGCCTTCTG -3'

Posted On

2015-06-10