Mutagenetix > Incidental Mutation

Incidental Mutation 'R7618:0610010F05Rik'

589008

Institutional Source

Beutler Lab

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R7618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23584550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 602 (C602W)

Ref Sequence

ENSEMBL: ENSMUSP00000136118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]

AlphaFold

Q68FF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043356
AA Change: C602W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: C602W

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: C456W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: C456W

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: C602W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: C602W

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: ENSMUST00000123909
AA Change: C108W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208
AA Change: C108W

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155903
AA Change: C602W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: C602W

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: C602W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: C602W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,166,870	Q222R	possibly damaging	Het
Akap11	T	C	14: 78,498,860	D1830G		Het
Alms1	A	G	6: 85,678,417	N2846S	probably benign	Het
Amt	A	C	9: 108,299,878	E228D	probably damaging	Het
Ankar	T	C	1: 72,675,766	M618V	probably benign	Het
Ankrd60	T	C	2: 173,571,041		probably null	Het
Aoc1	A	G	6: 48,906,386	T399A	possibly damaging	Het
Aqp11	T	A	7: 97,737,666	I108F	probably benign	Het
Arfgef3	G	T	10: 18,646,281	Q666K	probably damaging	Het
Bin2	T	A	15: 100,645,013	R430W	probably damaging	Het
Cdh18	T	A	15: 23,366,970	V254D	probably damaging	Het
Cfap46	A	T	7: 139,603,239	S159R		Het
Clnk	A	T	5: 38,736,355	S220T	probably benign	Het
Col19a1	G	T	1: 24,322,084	H608Q	probably benign	Het
Cplx1	C	T	5: 108,525,529	E24K	possibly damaging	Het
Dnah3	A	T	7: 119,978,378	L2031Q	probably damaging	Het
Dok1	T	C	6: 83,032,891	E79G	probably benign	Het
Eif4g3	T	C	4: 138,171,118	S902P	probably damaging	Het
Emilin3	T	A	2: 160,909,279	E183D	probably benign	Het
Fam124b	G	A	1: 80,213,837		probably benign	Het
Gm9195	T	C	14: 72,452,835	Y1816C	probably damaging	Het
Ighv5-9-1	T	A	12: 113,736,199	I98F	probably damaging	Het
Il31ra	G	A	13: 112,551,980	P21L	possibly damaging	Het
Kat6a	A	G	8: 22,862,562	I121V	possibly damaging	Het
Kif11	T	C	19: 37,411,560	W832R	probably benign	Het
Klhl9	T	C	4: 88,720,535	T490A	possibly damaging	Het
Lars	G	T	18: 42,244,891	A153E	probably benign	Het
Muc5b	A	T	7: 141,867,597	I4275L	probably benign	Het
Myo10	T	A	15: 25,726,475	C294*	probably null	Het
Nceh1	T	A	3: 27,183,217		probably null	Het
Ncf1	T	A	5: 134,227,267	T93S	probably benign	Het
Nfatc2	G	A	2: 168,534,999	R545C	probably damaging	Het
Nos1	C	T	5: 117,903,944	P545S	probably benign	Het
Ogfod3	C	A	11: 121,202,978	V69F	probably damaging	Het
Olfr1197	A	T	2: 88,728,836	Y254*	probably null	Het
Phf12	A	G	11: 78,026,134	N272S	unknown	Het
Prkcz	T	A	4: 155,262,482	I581F	probably damaging	Het
Rasgrf2	T	C	13: 91,987,966	H8R		Het
Rb1cc1	T	A	1: 6,265,558		probably null	Het
Rcor2	T	A	19: 7,271,046	M186K	possibly damaging	Het
Rnf111	C	A	9: 70,503,332		probably benign	Het
Serinc3	A	T	2: 163,630,969	F247Y	possibly damaging	Het
Serpina1c	T	A	12: 103,898,770	I206F	probably damaging	Het
Slc25a10	G	A	11: 120,496,971		probably null	Het
Syne2	T	G	12: 75,945,334	H1993Q	probably benign	Het
Tap1	A	G	17: 34,188,238	Y120C	possibly damaging	Het
Tex30	A	T	1: 44,088,250		probably null	Het
Ube2ql1	G	T	13: 69,738,947	Q132K	probably benign	Het
Unc13d	T	C	11: 116,066,721	N803D	probably damaging	Het
Vcan	G	A	13: 89,692,223	S1734F	probably damaging	Het
Wdfy4	T	C	14: 32,985,739	Y2630C		Het
Wdr93	A	G	7: 79,785,726	T668A	probably benign	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
IGL03046:0610010F05Rik	UTSW	11	23615150	missense	possibly damaging	0.77
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
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
R9526:0610010F05Rik	UTSW	11	23609098	missense	probably damaging	1.00
R9583:0610010F05Rik	UTSW	11	23581642	missense	possibly damaging	0.69
R9622:0610010F05Rik	UTSW	11	23584590	missense	probably damaging	0.99
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'- TCCAAAGGTCCCACATCTTC -3'
(R):5'- ATTAGAACAAGCCCTGTGCAG -3'

Sequencing Primer
(F):5'- AGGTCCCACATCTTCCAGAGTC -3'
(R):5'- GTGCAGCAGCTTCATTCTGAC -3'

Posted On

2019-10-24