Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:2700081O15Rik'

607219

Institutional Source

Beutler Lab

Gene Symbol

2700081O15Rik

Ensembl Gene

ENSMUSG00000053080

Gene Name

RIKEN cDNA 2700081O15 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7855 (G1)

Quality Score

211.009

Status

Not validated

Chromosome

Chromosomal Location

7417625-7425904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7422256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 456 (I456N)

Ref Sequence

ENSEMBL: ENSMUSP00000123773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025667] [ENSMUST00000065304] [ENSMUST00000088169] [ENSMUST00000088171] [ENSMUST00000159348] [ENSMUST00000161907]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025667

SMART Domains

Protein: ENSMUSP00000025667
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
Pfam:Reticulon	49	219	8.7e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065304

SMART Domains

Protein: ENSMUSP00000065810
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
low complexity region	42	66	N/A	INTRINSIC
low complexity region	80	91	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	516	527	N/A	INTRINSIC
low complexity region	639	650	N/A	INTRINSIC
Pfam:Reticulon	776	940	9.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088169

SMART Domains

Protein: ENSMUSP00000085494
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
low complexity region	42	66	N/A	INTRINSIC
Pfam:Reticulon	68	238	1.1e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088171

SMART Domains

Protein: ENSMUSP00000085496
Gene: ENSMUSG00000024758

Domain	Start	End	E-Value	Type
low complexity region	4	56	N/A	INTRINSIC
low complexity region	61	72	N/A	INTRINSIC
low complexity region	100	112	N/A	INTRINSIC
low complexity region	497	508	N/A	INTRINSIC
low complexity region	620	631	N/A	INTRINSIC
Pfam:Reticulon	757	927	1.8e-56	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000124442
Gene: ENSMUSG00000053080
AA Change: I251N

Domain	Start	End	E-Value	Type
coiled coil region	14	41	N/A	INTRINSIC
low complexity region	42	67	N/A	INTRINSIC
low complexity region	72	97	N/A	INTRINSIC
low complexity region	178	215	N/A	INTRINSIC
ZnF_C2H2	231	256	2.06e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159348
AA Change: I456N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123773
Gene: ENSMUSG00000053080
AA Change: I456N

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC
ZnF_C2H2	124	149	3.38e1	SMART
low complexity region	171	201	N/A	INTRINSIC
low complexity region	205	230	N/A	INTRINSIC
low complexity region	235	260	N/A	INTRINSIC
ZnF_C2H2	283	308	1.06e2	SMART
low complexity region	382	419	N/A	INTRINSIC
ZnF_C2H2	435	460	2.06e1	SMART
low complexity region	491	522	N/A	INTRINSIC
low complexity region	540	547	N/A	INTRINSIC
low complexity region	557	572	N/A	INTRINSIC
ZnF_C2H2	600	625	2.54e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161907

SMART Domains

Protein: ENSMUSP00000139847
Gene: ENSMUSG00000053080

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
ZnF_C2H2	70	95	1.4e-1	SMART
coiled coil region	124	151	N/A	INTRINSIC
low complexity region	173	180	N/A	INTRINSIC
low complexity region	190	205	N/A	INTRINSIC
ZnF_C2H2	233	258	1.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191580

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly damaging	Het

Other mutations in 2700081O15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:2700081O15Rik	APN	19	7422376	missense	probably damaging	1.00
IGL02814:2700081O15Rik	APN	19	7420422	missense	possibly damaging	0.94
H8562:2700081O15Rik	UTSW	19	7422921	missense	probably benign	0.01
R0034:2700081O15Rik	UTSW	19	7420359	missense	probably damaging	1.00
R0583:2700081O15Rik	UTSW	19	7420274	missense	probably damaging	1.00
R2351:2700081O15Rik	UTSW	19	7422244	missense	probably damaging	1.00
R4326:2700081O15Rik	UTSW	19	7421226	intron	probably benign
R4329:2700081O15Rik	UTSW	19	7421226	intron	probably benign
R5474:2700081O15Rik	UTSW	19	7420159	missense	probably damaging	1.00
R5735:2700081O15Rik	UTSW	19	7422796	missense	probably benign
R6168:2700081O15Rik	UTSW	19	7422940	missense	probably benign	0.40
R6739:2700081O15Rik	UTSW	19	7421347	nonsense	probably null
R7780:2700081O15Rik	UTSW	19	7422372	missense	probably damaging	0.96
R8550:2700081O15Rik	UTSW	19	7422955	missense	probably benign	0.00
R9423:2700081O15Rik	UTSW	19	7420259	missense	probably damaging	1.00
R9429:2700081O15Rik	UTSW	19	7422229	missense	probably damaging	1.00
Z1176:2700081O15Rik	UTSW	19	7422747	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGTAAGGACAACACAGCC -3'
(R):5'- GAGCGAGTGCCATCAATCAG -3'

Sequencing Primer
(F):5'- CCTGACCAGAAAGAGCCGG -3'
(R):5'- GTGCCATCAATCAGGCCCAG -3'

Posted On

2019-12-20