Mutagenetix > Incidental Mutation

Incidental Mutation 'R4361:1700003E16Rik'

324909

Institutional Source

Beutler Lab

Gene Symbol

1700003E16Rik

Ensembl Gene

ENSMUSG00000030030

Gene Name

RIKEN cDNA 1700003E16 gene

Synonyms

MMRRC Submission

041112-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

R4361 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83133386-83139927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83139688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 538 (T538A)

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 damaging
Transcript: ENSMUST00000032106
AA Change: T538A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030
AA Change: T538A

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

noncoding transcript
Transcript: ENSMUST00000154953

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

Meta Mutation Damage Score

0.1036

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	T	C	14: 67,175,850 (GRCm39)		noncoding transcript	Het
Aadac	T	A	3: 59,947,182 (GRCm39)	S293R	probably benign	Het
Cc2d1b	G	A	4: 108,481,947 (GRCm39)		probably benign	Het
Ccdc157	C	T	11: 4,096,550 (GRCm39)	A400T	probably damaging	Het
Cdc42ep5	A	G	7: 4,154,779 (GRCm39)	V3A	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,865 (GRCm39)	M232L	possibly damaging	Het
Dhrs2	G	A	14: 55,478,646 (GRCm39)	D264N	probably damaging	Het
Dram2	T	C	3: 106,473,531 (GRCm39)		probably benign	Het
Dtx4	C	A	19: 12,462,660 (GRCm39)	S373I	probably benign	Het
Eif4a1	G	A	11: 69,558,290 (GRCm39)		probably benign	Het
Eps15	T	C	4: 109,237,228 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,676 (GRCm39)	Q235L	probably damaging	Het
Fgfr3	T	C	5: 33,880,676 (GRCm39)		probably benign	Het
Gabra4	C	T	5: 71,790,888 (GRCm39)		probably null	Het
Gins1	A	G	2: 150,767,821 (GRCm39)	Y117C	probably damaging	Het
Gm12253	T	A	11: 58,325,687 (GRCm39)	S53T	probably benign	Het
Gne	C	A	4: 44,059,947 (GRCm39)	A149S	possibly damaging	Het
Gpc2	A	T	5: 138,276,552 (GRCm39)	C191*	probably null	Het
Has2	G	T	15: 56,545,344 (GRCm39)	A86E	probably damaging	Het
Ift80	A	T	3: 68,870,982 (GRCm39)	S205T	probably damaging	Het
Irx5	G	T	8: 93,085,025 (GRCm39)	A72S	probably damaging	Het
Kcnmb4	A	T	10: 116,309,410 (GRCm39)	V6E	probably benign	Het
Kcnt1	A	T	2: 25,768,044 (GRCm39)	Q51L	probably benign	Het
Klk1b11	A	G	7: 43,645,378 (GRCm39)		probably null	Het
Kmt2d	T	G	15: 98,761,551 (GRCm39)	M600L	unknown	Het
Lmtk2	T	A	5: 144,084,482 (GRCm39)	S172R	probably damaging	Het
Lrrc37	CTTTT	CTTTTT	11: 103,508,327 (GRCm39)		probably null	Het
Lrrc46	G	A	11: 96,925,496 (GRCm39)		probably benign	Het
Mab21l2	C	T	3: 86,454,497 (GRCm39)	V168M	probably damaging	Het
Magea3	A	C	X: 153,731,850 (GRCm39)	C218G	possibly damaging	Het
Magea3	C	A	X: 153,731,849 (GRCm39)	C218F	probably benign	Het
Man1a2	T	C	3: 100,563,358 (GRCm39)	K96E	probably benign	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myf6	GGGGGCAG	GG	10: 107,330,293 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nav1	G	A	1: 135,535,175 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,688,847 (GRCm39)	K477E	probably damaging	Het
Nup98	T	A	7: 101,794,921 (GRCm39)	H862L	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcnx2	G	T	8: 126,495,037 (GRCm39)	S1608*	probably null	Het
Pramel16	A	G	4: 143,677,433 (GRCm39)	F49L	possibly damaging	Het
Ren1	A	G	1: 133,286,779 (GRCm39)	I303V	probably benign	Het
Retreg3	T	A	11: 100,994,713 (GRCm39)		probably null	Het
Rnf6	C	A	5: 146,148,089 (GRCm39)	V310F	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scrn2	C	T	11: 96,923,064 (GRCm39)	A169V	probably null	Het
Slc4a10	T	C	2: 62,073,729 (GRCm39)	S264P	probably benign	Het
Tex26	A	T	5: 149,384,388 (GRCm39)	Q102L	probably benign	Het
Tex38	A	G	4: 115,637,420 (GRCm39)	S128P	probably benign	Het
Trmt1l	A	G	1: 151,311,626 (GRCm39)		probably benign	Het
Tyr	G	T	7: 87,078,284 (GRCm39)	H525Q	probably benign	Het
Veph1	T	C	3: 66,066,737 (GRCm39)	N417S	probably benign	Het
Zfp597	A	T	16: 3,683,764 (GRCm39)	S331T	probably 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
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
R8121:1700003E16Rik	UTSW	6	83,138,893 (GRCm39)	missense	probably benign
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'- TATGGCCCCTAGCTAAGTGG -3'
(R):5'- ATTTCCCAGTGTGGAGGCTC -3'

Sequencing Primer
(F):5'- CCTAGCTAAGTGGCCAAGTG -3'
(R):5'- CAGTGTGGAGGCTCAGGAC -3'

Posted On

2015-07-06