Mutagenetix > Incidental Mutation

Incidental Mutation 'R5727:Ier5l'

452540

Institutional Source

Beutler Lab

Gene Symbol

Ier5l

Ensembl Gene

ENSMUSG00000089762

Gene Name

immediate early response 5-like

Synonyms

2610524G09Rik

MMRRC Submission

043190-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R5727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30362643-30364211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30363171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 285 (C285R)

Ref Sequence

ENSEMBL: ENSMUSP00000132594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065134]

AlphaFold

Q99J55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065134
AA Change: C285R

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132594
Gene: ENSMUSG00000089762
AA Change: C285R

Domain	Start	End	E-Value	Type
Pfam:IER	1	406	8.1e-141	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	C	A	14: 29,712,838 (GRCm39)	L494M	probably benign	Het
Ahnak	G	T	19: 8,994,111 (GRCm39)	A5132S	probably damaging	Het
Cadps	G	A	14: 12,486,525 (GRCm38)	Q882*	probably null	Het
Cdhr2	G	A	13: 54,872,121 (GRCm39)	V662M	possibly damaging	Het
Cdyl2	T	A	8: 117,309,907 (GRCm39)	I350F	probably damaging	Het
Cfap44	T	G	16: 44,255,805 (GRCm39)	F966V	probably damaging	Het
Cpxm1	G	A	2: 130,232,883 (GRCm39)	R704*	probably null	Het
Dnah11	A	T	12: 118,090,841 (GRCm39)	F1034L	probably damaging	Het
Dpep2	A	G	8: 106,713,075 (GRCm39)	V440A	probably benign	Het
Ehmt2	A	T	17: 35,125,008 (GRCm39)	M11L	possibly damaging	Het
Eml2	C	T	7: 18,924,685 (GRCm39)	H185Y	probably damaging	Het
Gm10845	T	A	14: 80,100,770 (GRCm39)		noncoding transcript	Het
Gm8122	T	G	14: 43,091,477 (GRCm39)	N97T	unknown	Het
Gnb1	A	G	4: 155,639,559 (GRCm39)	T263A	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Kif21b	A	G	1: 136,097,747 (GRCm39)	N1336D	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lama1	A	G	17: 68,122,219 (GRCm39)	H2722R	possibly damaging	Het
Mdm2	A	G	10: 117,538,212 (GRCm39)	M13T	possibly damaging	Het
Micall1	T	A	15: 79,014,678 (GRCm39)	Y685N	possibly damaging	Het
Mthfd1l	T	G	10: 4,053,302 (GRCm39)	S884A	possibly damaging	Het
Nkiras2	A	G	11: 100,515,853 (GRCm39)	Y60C	probably damaging	Het
Oc90	T	G	15: 65,753,388 (GRCm39)	R342S	possibly damaging	Het
Or11h23	C	A	14: 50,947,817 (GRCm39)	T10K	possibly damaging	Het
Or1j4	T	C	2: 36,740,544 (GRCm39)	L162P	possibly damaging	Het
Or4k35	T	A	2: 111,100,197 (GRCm39)	R172*	probably null	Het
Or4p20	T	A	2: 88,253,791 (GRCm39)	I193F	probably benign	Het
Or9s13	A	G	1: 92,547,900 (GRCm39)	N91D	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp9	G	T	16: 35,784,467 (GRCm39)	E507*	probably null	Het
Pex13	A	G	11: 23,605,705 (GRCm39)	I175T	probably benign	Het
Phf12	A	G	11: 77,914,370 (GRCm39)	E604G	probably damaging	Het
Ppfia4	A	T	1: 134,251,815 (GRCm39)		probably null	Het
Rragc	T	C	4: 123,813,828 (GRCm39)	Y141H	possibly damaging	Het
Slc35g3	A	G	11: 69,651,280 (GRCm39)	V257A	probably benign	Het
Snx5	T	C	2: 144,102,674 (GRCm39)	T80A	probably benign	Het
Sorcs2	G	A	5: 36,188,630 (GRCm39)	A826V	possibly damaging	Het
Sptb	G	A	12: 76,669,888 (GRCm39)	A480V	probably benign	Het
Tmem161b	T	A	13: 84,434,909 (GRCm39)	S302R	possibly damaging	Het
Ube2o	A	T	11: 116,430,496 (GRCm39)	F1081I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,608 (GRCm39)	I658V	probably benign	Het
Vwa3b	T	G	1: 37,174,600 (GRCm39)	L672V	probably benign	Het
Wscd2	T	C	5: 113,715,411 (GRCm39)	F417S	possibly damaging	Het

Other mutations in Ier5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Ier5l	APN	2	30,363,966 (GRCm39)	missense	probably damaging	1.00
IGL03209:Ier5l	APN	2	30,363,067 (GRCm39)	missense	possibly damaging	0.84
R2073:Ier5l	UTSW	2	30,363,068 (GRCm39)	missense	probably damaging	0.99
R4051:Ier5l	UTSW	2	30,363,324 (GRCm39)	missense	probably benign	0.32
R8329:Ier5l	UTSW	2	30,362,861 (GRCm39)	missense	possibly damaging	0.86
R8400:Ier5l	UTSW	2	30,363,105 (GRCm39)	missense	possibly damaging	0.93
R8542:Ier5l	UTSW	2	30,362,948 (GRCm39)	missense	possibly damaging	0.52
RF035:Ier5l	UTSW	2	30,363,832 (GRCm39)	small deletion	probably benign
X0021:Ier5l	UTSW	2	30,363,832 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCAGAAGTCCTCGAAGC -3'
(R):5'- CACTTGGAGCCGCTGCAG -3'

Sequencing Primer
(F):5'- AAGTCCTCGAAGCGGGCG -3'
(R):5'- CCCTTCGACCGTCGCTG -3'

Posted On

2017-01-03