Mutagenetix > Incidental Mutations

Incidental Mutation 'R7717:D230025D16Rik'

594981

Institutional Source

Beutler Lab

Gene Symbol

D230025D16Rik

Ensembl Gene

ENSMUSG00000031889

Gene Name

RIKEN cDNA D230025D16 gene

Synonyms

Lin10

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R7717 (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 105251604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 397 (Q397K)

Ref Sequence

ENSEMBL: ENSMUSP00000034361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034361] [ENSMUST00000093217] [ENSMUST00000124113] [ENSMUST00000136822] [ENSMUST00000141957] [ENSMUST00000161745]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034361
AA Change: Q397K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
AA Change: Q397K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161745

SMART Domains

Protein: ENSMUSP00000125145
Gene: ENSMUSG00000069920

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185	D766V	probably damaging	Het
Larp1b	C	T	3: 40,972,444	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Lss	T	C	10: 76,545,452	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	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
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
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'- TACTTCAGCAGGCTTTCGTAG -3'
(R):5'- GCCAAGGTGTCCAAGCAAAC -3'

Sequencing Primer
(F):5'- AAAAGCCATGTGTCCTGTGAAC -3'
(R):5'- GGTGTCCAAGCAAACACACAGG -3'

Posted On

2019-11-12