Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03046:0610010F05Rik'

391870

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL03046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23615150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 279 (L279Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000141353] [ENSMUST00000155903] [ENSMUST00000180260]

AlphaFold

Q68FF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043356
AA Change: L279Q

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: L279Q

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093267
AA Change: L133Q

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: L133Q

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	303	7.7e-107	PFAM
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	450	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109532
AA Change: L279Q

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: L279Q

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141353
AA Change: L133Q

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121553
Gene: ENSMUSG00000042208
AA Change: L133Q

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	189	7.1e-75	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155903
AA Change: L279Q

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: L279Q

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	1e-106	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180260
AA Change: L279Q

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: L279Q

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	4.5e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Meta Mutation Damage Score

0.1836

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,659,323	M717K	probably benign	Het
Acad12	C	A	5: 121,609,966	V130L	probably benign	Het
Cdca2	T	C	14: 67,700,022		probably benign	Het
Cfap100	T	A	6: 90,412,350		probably null	Het
Cfap43	T	A	19: 47,815,863	E298V	probably damaging	Het
Cic	C	T	7: 25,291,075	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,604,338	D611G	probably benign	Het
Daglb	C	T	5: 143,501,193	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,803,281	I438K	probably benign	Het
Ddx5	C	A	11: 106,785,045	R273M	probably damaging	Het
Eepd1	C	T	9: 25,482,685	L82F	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Exoc6	T	C	19: 37,593,769		probably null	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Foxs1	T	C	2: 152,932,564	T190A	probably benign	Het
Gje1	A	G	10: 14,716,630	L136P	probably damaging	Het
Hdac11	A	G	6: 91,168,845	T176A	probably benign	Het
Hhip	C	A	8: 79,972,338	V700L	probably damaging	Het
Hps5	T	C	7: 46,777,039		probably benign	Het
Itgb1bp1	T	C	12: 21,279,435	S13G	unknown	Het
Kcna1	A	T	6: 126,642,185	L391M	possibly damaging	Het
Kif1a	C	T	1: 93,082,406	V6M	probably damaging	Het
Klhl6	T	C	16: 19,982,889	I39V	probably benign	Het
Lpcat4	C	A	2: 112,241,989		silent	Het
Ltn1	A	T	16: 87,405,621	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,287,983	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,292,128		probably null	Het
Mtnr1b	T	C	9: 15,862,763	I333M	probably benign	Het
Muc5ac	G	T	7: 141,795,213	C463F	probably benign	Het
Mycbpap	G	T	11: 94,505,717	T99N	possibly damaging	Het
Myo7a	C	T	7: 98,079,327	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,790,960	H311R	probably damaging	Het
Nepro	T	A	16: 44,732,146		probably benign	Het
Nop56	A	T	2: 130,275,569		probably benign	Het
Nup210	A	G	6: 91,018,996		probably benign	Het
Olfr1426	A	G	19: 12,088,027	V255A	probably damaging	Het
Olfr843	T	A	9: 19,249,145	I85F	probably damaging	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pkhd1	T	G	1: 20,537,365	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,328,412	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,129,027		probably benign	Het
Prss43	C	G	9: 110,830,981	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,695,157	V1322D	probably damaging	Het
Rrp8	A	G	7: 105,734,902	V131A	probably benign	Het
Rtp1	A	T	16: 23,429,294	K39M	probably benign	Het
Slc1a6	A	G	10: 78,800,174	I358V	probably benign	Het
Slc25a15	T	C	8: 22,395,710		probably benign	Het
Slc43a1	G	A	2: 84,854,553		probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Spock3	T	G	8: 63,348,984		probably null	Het
Tbc1d7	T	C	13: 43,154,686		probably null	Het
Tmem184c	C	T	8: 77,599,657	W260*	probably null	Het
Tmem8	A	T	17: 26,119,440		probably null	Het
Trnau1ap	A	G	4: 132,311,941	Y265H	probably damaging	Het
Usp25	T	C	16: 77,074,866	F363S	probably damaging	Het
Vcl	T	C	14: 21,022,017	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,210,732	M292K	probably benign	Het
Xpc	G	T	6: 91,510,481	A89E	probably damaging	Het

Other mutations in 0610010F05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:0610010F05Rik	APN	11	23595434	missense	probably damaging	1.00
IGL01444:0610010F05Rik	APN	11	23620225	splice site	probably benign
IGL01522:0610010F05Rik	APN	11	23582865	critical splice donor site	probably null
IGL01819:0610010F05Rik	APN	11	23584561	missense	probably benign	0.29
IGL02470:0610010F05Rik	APN	11	23615222	missense	probably damaging	0.99
R0139:0610010F05Rik	UTSW	11	23620214	splice site	probably benign
R0334:0610010F05Rik	UTSW	11	23617129	splice site	probably benign
R0646:0610010F05Rik	UTSW	11	23575491	missense	probably damaging	0.99
R1078:0610010F05Rik	UTSW	11	23611762	missense	probably benign	0.45
R1263:0610010F05Rik	UTSW	11	23620278	nonsense	probably null
R1471:0610010F05Rik	UTSW	11	23615222	missense	probably damaging	0.99
R1568:0610010F05Rik	UTSW	11	23589971	missense	probably damaging	1.00
R2163:0610010F05Rik	UTSW	11	23576826	splice site	probably benign
R2318:0610010F05Rik	UTSW	11	23588701	missense	probably damaging	1.00
R2426:0610010F05Rik	UTSW	11	23576801	missense	probably damaging	1.00
R4373:0610010F05Rik	UTSW	11	23615265	splice site	probably null
R4688:0610010F05Rik	UTSW	11	23593449	missense	probably benign
R4816:0610010F05Rik	UTSW	11	23615243	missense	possibly damaging	0.67
R5046:0610010F05Rik	UTSW	11	23620354	missense	probably benign	0.23
R5156:0610010F05Rik	UTSW	11	23593424	critical splice donor site	probably null
R5249:0610010F05Rik	UTSW	11	23575483	makesense	probably null
R5615:0610010F05Rik	UTSW	11	23606759	missense	probably damaging	0.96
R6758:0610010F05Rik	UTSW	11	23588475	splice site	probably null
R6860:0610010F05Rik	UTSW	11	23625100	missense	probably damaging	1.00
R6910:0610010F05Rik	UTSW	11	23620447	missense	probably damaging	0.99
R7255:0610010F05Rik	UTSW	11	23620465	missense	probably benign	0.41
R7286:0610010F05Rik	UTSW	11	23622479	missense	probably benign	0.07
R7603:0610010F05Rik	UTSW	11	23566191	missense	probably benign
R7618:0610010F05Rik	UTSW	11	23584550	missense	possibly damaging	0.91
R7717:0610010F05Rik	UTSW	11	23606757	missense	probably benign	0.05
R8110:0610010F05Rik	UTSW	11	23576764	missense	probably benign
R8677:0610010F05Rik	UTSW	11	23595471	missense	probably benign	0.24
R9165:0610010F05Rik	UTSW	11	23615244	missense	probably benign	0.00
R9175:0610010F05Rik	UTSW	11	23584518	critical splice donor site	probably null
X0026:0610010F05Rik	UTSW	11	23576767	missense	probably benign	0.00
X0067:0610010F05Rik	UTSW	11	23593420	splice site	probably null
Z1177:0610010F05Rik	UTSW	11	23624960	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- GACGTCTTAATCTTAACACAGCTC -3'
(R):5'- TGGAAGGTATTACTCTGTCGATATC -3'

Sequencing Primer
(F):5'- GTAAGTGGTTTCCTGACATCCACATG -3'
(R):5'- ATGAATGCCATAGTAGCTG -3'

Posted On

2016-06-07