Mutagenetix > Incidental Mutation

Incidental Mutation 'R8121:1700003E16Rik'

631495

Institutional Source

Beutler Lab

Gene Symbol

1700003E16Rik

Ensembl Gene

ENSMUSG00000030030

Gene Name

RIKEN cDNA 1700003E16 gene

Synonyms

MMRRC Submission

067550-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.665) question?

Stock #

R8121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83133386-83139927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83138893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 273 (M273L)

Ref Sequence

ENSEMBL: ENSMUSP00000032106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032106] [ENSMUST00000077407] [ENSMUST00000113913] [ENSMUST00000130212] [ENSMUST00000203203]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032106
AA Change: M273L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030
AA Change: M273L

Domain	Start	End	E-Value	Type
Pfam:DUF4639	6	571	3.7e-266	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077407

SMART Domains

Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865

Domain	Start	End	E-Value	Type
CAP_GLY	12	78	5.52e-31	SMART
low complexity region	124	147	N/A	INTRINSIC
low complexity region	148	177	N/A	INTRINSIC
SCOP:d1fxkc_	185	337	3e-3	SMART
low complexity region	363	379	N/A	INTRINSIC
Pfam:Dynactin	489	768	8.2e-91	PFAM
low complexity region	800	820	N/A	INTRINSIC
coiled coil region	914	1009	N/A	INTRINSIC
low complexity region	1025	1043	N/A	INTRINSIC
coiled coil region	1143	1172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113913

SMART Domains

Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865

Domain	Start	End	E-Value	Type
CAP_GLY	12	78	5.52e-31	SMART
low complexity region	118	139	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC
low complexity region	168	197	N/A	INTRINSIC
SCOP:d1fxkc_	205	357	3e-3	SMART
low complexity region	383	399	N/A	INTRINSIC
Pfam:Dynactin	509	788	2.5e-90	PFAM
low complexity region	820	840	N/A	INTRINSIC
coiled coil region	934	1029	N/A	INTRINSIC
low complexity region	1051	1069	N/A	INTRINSIC
coiled coil region	1168	1197	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130212

SMART Domains

Protein: ENSMUSP00000115838
Gene: ENSMUSG00000031865

Domain	Start	End	E-Value	Type
CAP_GLY	12	78	5.52e-31	SMART
low complexity region	124	147	N/A	INTRINSIC
low complexity region	148	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203203

SMART Domains

Protein: ENSMUSP00000145406
Gene: ENSMUSG00000030030

Domain	Start	End	E-Value	Type
Pfam:DUF4639	6	82	1.4e-52	PFAM
low complexity region	90	107	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 97.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,452,241 (GRCm39)	K912N	unknown	Het
Arfgap2	T	C	2: 91,096,028 (GRCm39)	F62L	probably benign	Het
Arhgap45	A	G	10: 79,853,909 (GRCm39)	E141G	probably damaging	Het
Atraid	G	A	5: 31,211,642 (GRCm39)		probably null	Het
Cd101	G	A	3: 100,927,898 (GRCm39)	A65V	probably damaging	Het
Cd177	A	G	7: 24,459,067 (GRCm39)	V114A	probably benign	Het
Cdh6	T	C	15: 13,044,757 (GRCm39)	N455S	probably damaging	Het
Cdk14	A	T	5: 5,277,195 (GRCm39)	S145T	possibly damaging	Het
Ces1h	T	C	8: 94,080,104 (GRCm39)	E470G	unknown	Het
Cfap58	A	G	19: 48,017,543 (GRCm39)	Y801C	probably benign	Het
Clec2d	C	T	6: 129,161,847 (GRCm39)	T160M	probably benign	Het
Cryz	A	G	3: 154,327,382 (GRCm39)	I269V	probably benign	Het
Ctdp1	A	T	18: 80,499,223 (GRCm39)	Y240N	probably damaging	Het
Dapk1	A	G	13: 60,909,212 (GRCm39)	Y1275C	probably damaging	Het
Dnah9	A	G	11: 65,908,201 (GRCm39)	I2385T	probably benign	Het
Dpp8	A	G	9: 64,985,362 (GRCm39)	M807V	probably benign	Het
Entpd3	T	A	9: 120,384,720 (GRCm39)	I99N	probably damaging	Het
Fbxw11	A	G	11: 32,670,646 (GRCm39)	E204G	possibly damaging	Het
Fscn1	T	C	5: 142,946,616 (GRCm39)	M138T	probably damaging	Het
Gm5114	T	A	7: 39,057,552 (GRCm39)	Q689L	probably benign	Het
Iqgap2	T	C	13: 95,861,076 (GRCm39)	N350S	probably benign	Het
Kcnj10	T	A	1: 172,196,809 (GRCm39)	C108S	probably damaging	Het
Krtap10-4	G	A	10: 77,662,840 (GRCm39)	R13C	unknown	Het
Lmo7	T	C	14: 102,163,736 (GRCm39)	I1527T	unknown	Het
Lrrc17	A	G	5: 21,775,329 (GRCm39)	K297R	probably benign	Het
Ltb4r1	G	A	14: 56,005,579 (GRCm39)	R294H	probably damaging	Het
Macc1	A	G	12: 119,410,324 (GRCm39)	D364G	probably damaging	Het
Mavs	A	C	2: 131,087,395 (GRCm39)	T298P	probably damaging	Het
Myh8	G	T	11: 67,180,647 (GRCm39)	A628S	probably benign	Het
Neurl4	A	T	11: 69,799,056 (GRCm39)		probably null	Het
Nicn1	C	A	9: 108,172,304 (GRCm39)	T213K	probably damaging	Het
Nptx1	G	A	11: 119,433,492 (GRCm39)	T369I	probably damaging	Het
Nt5c1a	T	C	4: 123,102,235 (GRCm39)	S54P	probably damaging	Het
Nup210l	G	A	3: 90,022,428 (GRCm39)	R132Q	probably damaging	Het
Or2b11	A	T	11: 59,461,870 (GRCm39)	I232N	probably damaging	Het
Or4k41	A	G	2: 111,279,505 (GRCm39)	T7A	probably benign	Het
Or4p18	A	T	2: 88,233,040 (GRCm39)	F79L	probably benign	Het
Or7g22	G	A	9: 19,048,988 (GRCm39)	G233E	probably damaging	Het
Pip5k1b	A	T	19: 24,337,355 (GRCm39)	I311N	probably damaging	Het
Pkdrej	C	T	15: 85,699,655 (GRCm39)	V2094I	probably benign	Het
Pla2g2f	A	G	4: 138,479,621 (GRCm39)	Y179H	probably damaging	Het
Plekha3	A	T	2: 76,516,992 (GRCm39)	T115S	probably damaging	Het
Ppp4c	A	G	7: 126,386,496 (GRCm39)	L167P	probably damaging	Het
Pramel28	T	A	4: 143,691,611 (GRCm39)	S371C	probably benign	Het
Rarg	A	G	15: 102,148,393 (GRCm39)	I238T	probably damaging	Het
Scn7a	A	T	2: 66,531,203 (GRCm39)	I558N	probably damaging	Het
Sema3a	C	A	5: 13,649,215 (GRCm39)	H655N	probably damaging	Het
Serpinb6c	T	C	13: 34,064,201 (GRCm39)	M285V	probably benign	Het
Setx	T	A	2: 29,035,046 (GRCm39)	S510R	possibly damaging	Het
Sgcz	A	G	8: 37,990,457 (GRCm39)	S299P	probably damaging	Het
Slc12a2	T	A	18: 58,032,403 (GRCm39)	F368I	probably benign	Het
Slc7a9	C	A	7: 35,153,542 (GRCm39)	T181K	probably damaging	Het
Slco2b1	G	A	7: 99,334,760 (GRCm39)	T237M	probably benign	Het
Spg11	A	G	2: 121,900,348 (GRCm39)		probably null	Het
Tbc1d22b	G	T	17: 29,791,945 (GRCm39)	G225V	probably damaging	Het
Tbcd	A	G	11: 121,487,969 (GRCm39)		probably null	Het
Unc93a	T	C	17: 13,328,560 (GRCm39)	Y431C	probably benign	Het
Vmn1r65	C	T	7: 6,011,464 (GRCm39)	V257I	possibly damaging	Het
Vmn2r124	A	T	17: 18,282,433 (GRCm39)	T154S	probably benign	Het
Wnk2	A	T	13: 49,214,415 (GRCm39)	L1487*	probably null	Het
Zfp853	G	A	5: 143,274,018 (GRCm39)	A549V	probably damaging	Het
Zfp936	C	T	7: 42,839,547 (GRCm39)	T338I	possibly damaging	Het

Other mutations in 1700003E16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:1700003E16Rik	APN	6	83,139,770 (GRCm39)	splice site	probably null
IGL02616:1700003E16Rik	APN	6	83,138,644 (GRCm39)	missense	probably benign
IGL03171:1700003E16Rik	APN	6	83,139,377 (GRCm39)	missense	possibly damaging	0.73
IGL03196:1700003E16Rik	APN	6	83,138,045 (GRCm39)	missense	probably damaging	1.00
R0124:1700003E16Rik	UTSW	6	83,138,656 (GRCm39)	missense	probably benign
R1081:1700003E16Rik	UTSW	6	83,139,002 (GRCm39)	missense	probably benign
R1184:1700003E16Rik	UTSW	6	83,137,894 (GRCm39)	missense	probably damaging	1.00
R1522:1700003E16Rik	UTSW	6	83,139,568 (GRCm39)	missense	probably damaging	0.96
R4361:1700003E16Rik	UTSW	6	83,139,688 (GRCm39)	missense	probably damaging	0.99
R4688:1700003E16Rik	UTSW	6	83,139,680 (GRCm39)	missense	probably damaging	0.99
R5326:1700003E16Rik	UTSW	6	83,138,336 (GRCm39)	missense	probably damaging	0.99
R6007:1700003E16Rik	UTSW	6	83,137,900 (GRCm39)	missense	possibly damaging	0.80
R7212:1700003E16Rik	UTSW	6	83,138,654 (GRCm39)	missense	probably benign	0.00
R7343:1700003E16Rik	UTSW	6	83,139,353 (GRCm39)	missense	probably benign	0.12
R8081:1700003E16Rik	UTSW	6	83,138,313 (GRCm39)	missense	probably damaging	1.00
R9188:1700003E16Rik	UTSW	6	83,139,230 (GRCm39)	missense	probably benign	0.12
R9329:1700003E16Rik	UTSW	6	83,133,556 (GRCm39)	start codon destroyed	probably null	0.55
Z1176:1700003E16Rik	UTSW	6	83,138,097 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGAGGGAAGCCATATGTTG -3'
(R):5'- TTCCAAAGGGTGCACTTCG -3'

Sequencing Primer
(F):5'- GGCTGTGCCCTCGAAGGAG -3'
(R):5'- GAATCCATGCGCAACGTG -3'

Posted On

2020-06-30