Mutagenetix > Incidental Mutation

Incidental Mutation 'R3960:Etl4'

312044

Institutional Source

Beutler Lab

Gene Symbol

Etl4

Ensembl Gene

ENSMUSG00000036617

Gene Name

enhancer trap locus 4

Synonyms

6620402G01Rik, Sickle tail, E330027G05Rik, Etl-4, Skt, 9430077C05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.809) question?

Stock #

R3960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19915018-20815346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20344854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 53 (T53A)

Ref Sequence

ENSEMBL: ENSMUSP00000119778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114610] [ENSMUST00000114627] [ENSMUST00000131714] [ENSMUST00000146881]

AlphaFold

A2AQ25

Predicted Effect

probably benign
Transcript: ENSMUST00000114610

SMART Domains

Protein: ENSMUSP00000110257
Gene: ENSMUSG00000036617

Domain	Start	End	E-Value	Type
Pfam:AIP3	108	211	5e-12	PFAM
low complexity region	233	248	N/A	INTRINSIC
low complexity region	270	288	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114627
AA Change: T53A

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

SMART Domains

Protein: ENSMUSP00000110274
Gene: ENSMUSG00000036617
AA Change: T53A

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
Pfam:AIP3	239	341	2.4e-14	PFAM
low complexity region	364	379	N/A	INTRINSIC
low complexity region	401	419	N/A	INTRINSIC
Pfam:AIP3	600	841	1.1e-12	PFAM
low complexity region	1153	1182	N/A	INTRINSIC
low complexity region	1423	1432	N/A	INTRINSIC
low complexity region	1521	1546	N/A	INTRINSIC
low complexity region	1622	1633	N/A	INTRINSIC
coiled coil region	1709	1737	N/A	INTRINSIC
low complexity region	1775	1788	N/A	INTRINSIC
low complexity region	1857	1876	N/A	INTRINSIC
low complexity region	1941	1959	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131714
AA Change: T50A

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

SMART Domains

Protein: ENSMUSP00000116637
Gene: ENSMUSG00000036617
AA Change: T50A

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	57	69	N/A	INTRINSIC
Blast:THAP	137	167	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000146881
AA Change: T53A

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

SMART Domains

Protein: ENSMUSP00000119778
Gene: ENSMUSG00000036617
AA Change: T53A

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
Blast:THAP	140	170	6e-6	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene-trapped allele display malformations of the notochord and caudal vertebrae and may exhibit caudal tail kinks. Mice homozygous for another gene-trapped allele have malformed caudal vertebrae and intervertebral disk abnormalities; about half display kinked tails. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Celf4	A	G	18: 25,670,811 (GRCm39)	M124T	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Hao1	A	C	2: 134,364,903 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,204,793 (GRCm39)	F317S	possibly damaging	Het
Ildr2	T	A	1: 166,136,909 (GRCm39)	W564R	probably damaging	Het
Impg1	G	T	9: 80,322,917 (GRCm39)	F29L	probably benign	Het
Itgam	T	C	7: 127,714,347 (GRCm39)	V834A	probably benign	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Itpr2	T	C	6: 146,131,262 (GRCm39)	N1948D	probably damaging	Het
Katnb1	T	C	8: 95,813,925 (GRCm39)	V17A	possibly damaging	Het
Nipbl	T	C	15: 8,380,018 (GRCm39)	N925D	probably benign	Het
Oasl2	T	C	5: 115,043,098 (GRCm39)	V70A	probably benign	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,333,749 (GRCm39)	H21R	probably benign	Het
Prkg2	G	T	5: 99,145,354 (GRCm39)	T160K	possibly damaging	Het
Sec23ip	C	G	7: 128,378,574 (GRCm39)	T796S	probably benign	Het
Smarcd2	A	G	11: 106,157,401 (GRCm39)	S182P	probably damaging	Het
Tbrg4	A	G	11: 6,568,077 (GRCm39)	S484P	probably benign	Het
Tprkb	A	G	6: 85,905,783 (GRCm39)	E156G	probably benign	Het
Zfp647	A	G	15: 76,795,176 (GRCm39)		probably null	Het

Other mutations in Etl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Etl4	APN	2	20,771,289 (GRCm39)	missense	possibly damaging	0.81
IGL00944:Etl4	APN	2	20,534,865 (GRCm39)	missense	possibly damaging	0.52
IGL01078:Etl4	APN	2	20,811,342 (GRCm39)	nonsense	probably null
IGL01099:Etl4	APN	2	20,811,922 (GRCm39)	missense	probably benign	0.06
IGL01337:Etl4	APN	2	20,790,198 (GRCm39)	missense	probably benign	0.01
IGL01348:Etl4	APN	2	20,811,784 (GRCm39)	missense	probably damaging	1.00
IGL01349:Etl4	APN	2	20,718,207 (GRCm39)	missense	probably damaging	1.00
IGL01407:Etl4	APN	2	20,748,667 (GRCm39)	missense	probably damaging	0.99
IGL01552:Etl4	APN	2	20,783,000 (GRCm39)	missense	probably damaging	0.99
IGL01662:Etl4	APN	2	20,811,460 (GRCm39)	missense	probably benign	0.04
IGL01687:Etl4	APN	2	20,534,898 (GRCm39)	missense	probably damaging	1.00
IGL01793:Etl4	APN	2	20,748,709 (GRCm39)	missense	possibly damaging	0.87
IGL01844:Etl4	APN	2	20,811,493 (GRCm39)	missense	probably benign	0.06
IGL02025:Etl4	APN	2	20,811,337 (GRCm39)	missense	probably damaging	1.00
IGL02088:Etl4	APN	2	20,811,359 (GRCm39)	missense	probably damaging	1.00
IGL02134:Etl4	APN	2	20,811,240 (GRCm39)	missense	possibly damaging	0.79
IGL02369:Etl4	APN	2	20,535,000 (GRCm39)	missense	probably damaging	1.00
IGL02480:Etl4	APN	2	20,793,335 (GRCm39)	missense	probably damaging	0.99
IGL02560:Etl4	APN	2	20,748,529 (GRCm39)	missense	probably damaging	1.00
IGL02851:Etl4	APN	2	20,812,840 (GRCm39)	missense	possibly damaging	0.46
IGL02893:Etl4	APN	2	20,765,021 (GRCm39)	splice site	probably benign
IGL02951:Etl4	APN	2	20,806,348 (GRCm39)	splice site	probably benign
IGL03119:Etl4	APN	2	20,718,198 (GRCm39)	missense	probably damaging	1.00
IGL03267:Etl4	APN	2	20,789,993 (GRCm39)	nonsense	probably null
IGL03379:Etl4	APN	2	20,666,827 (GRCm39)	missense	possibly damaging	0.87
R0038:Etl4	UTSW	2	20,748,385 (GRCm39)	missense	probably damaging	1.00
R0038:Etl4	UTSW	2	20,748,385 (GRCm39)	missense	probably damaging	1.00
R0095:Etl4	UTSW	2	20,748,679 (GRCm39)	missense	probably damaging	1.00
R0100:Etl4	UTSW	2	20,344,716 (GRCm39)	missense	probably benign
R0311:Etl4	UTSW	2	20,811,940 (GRCm39)	missense	probably damaging	1.00
R0346:Etl4	UTSW	2	20,764,463 (GRCm39)	critical splice donor site	probably null
R0348:Etl4	UTSW	2	20,782,940 (GRCm39)	missense	probably damaging	1.00
R0379:Etl4	UTSW	2	20,812,165 (GRCm39)	missense	probably damaging	0.98
R0571:Etl4	UTSW	2	20,748,580 (GRCm39)	missense	probably damaging	0.99
R0697:Etl4	UTSW	2	20,748,672 (GRCm39)	missense	probably damaging	1.00
R0707:Etl4	UTSW	2	20,810,382 (GRCm39)	splice site	probably benign
R0980:Etl4	UTSW	2	20,806,378 (GRCm39)	missense	probably damaging	1.00
R1120:Etl4	UTSW	2	20,811,514 (GRCm39)	missense	probably benign	0.00
R1254:Etl4	UTSW	2	20,812,734 (GRCm39)	missense	probably damaging	1.00
R1346:Etl4	UTSW	2	20,810,955 (GRCm39)	missense	possibly damaging	0.94
R1460:Etl4	UTSW	2	20,793,288 (GRCm39)	missense	probably damaging	1.00
R1503:Etl4	UTSW	2	20,748,685 (GRCm39)	missense	possibly damaging	0.94
R1547:Etl4	UTSW	2	20,790,039 (GRCm39)	missense	probably damaging	1.00
R1627:Etl4	UTSW	2	20,806,390 (GRCm39)	missense	possibly damaging	0.91
R1635:Etl4	UTSW	2	20,811,219 (GRCm39)	missense	probably damaging	1.00
R1716:Etl4	UTSW	2	20,748,492 (GRCm39)	missense	probably damaging	1.00
R1795:Etl4	UTSW	2	20,812,837 (GRCm39)	critical splice donor site	probably null
R1885:Etl4	UTSW	2	20,748,795 (GRCm39)	missense	probably damaging	1.00
R2039:Etl4	UTSW	2	20,790,039 (GRCm39)	missense	probably damaging	1.00
R2083:Etl4	UTSW	2	20,748,360 (GRCm39)	missense	probably damaging	1.00
R2109:Etl4	UTSW	2	20,790,153 (GRCm39)	missense	probably benign	0.27
R2153:Etl4	UTSW	2	20,803,545 (GRCm39)	missense	probably benign	0.00
R2403:Etl4	UTSW	2	20,812,117 (GRCm39)	nonsense	probably null
R2883:Etl4	UTSW	2	20,810,985 (GRCm39)	missense	possibly damaging	0.83
R2985:Etl4	UTSW	2	20,786,660 (GRCm39)	missense	probably damaging	1.00
R3402:Etl4	UTSW	2	20,786,693 (GRCm39)	missense	probably damaging	1.00
R3696:Etl4	UTSW	2	20,806,473 (GRCm39)	critical splice donor site	probably null
R3755:Etl4	UTSW	2	20,748,348 (GRCm39)	missense	probably benign	0.10
R3813:Etl4	UTSW	2	20,793,246 (GRCm39)	missense	probably damaging	1.00
R3829:Etl4	UTSW	2	20,790,232 (GRCm39)	missense	probably benign	0.07
R3887:Etl4	UTSW	2	20,534,772 (GRCm39)	nonsense	probably null
R3888:Etl4	UTSW	2	20,534,772 (GRCm39)	nonsense	probably null
R3889:Etl4	UTSW	2	20,534,772 (GRCm39)	nonsense	probably null
R3958:Etl4	UTSW	2	20,344,854 (GRCm39)	missense	probably benign
R3959:Etl4	UTSW	2	20,344,854 (GRCm39)	missense	probably benign
R4058:Etl4	UTSW	2	20,810,830 (GRCm39)	missense	possibly damaging	0.59
R4074:Etl4	UTSW	2	20,814,030 (GRCm39)	utr 3 prime	probably benign
R4077:Etl4	UTSW	2	20,812,772 (GRCm39)	missense	probably damaging	1.00
R4078:Etl4	UTSW	2	20,812,772 (GRCm39)	missense	probably damaging	1.00
R4127:Etl4	UTSW	2	20,748,886 (GRCm39)	missense	possibly damaging	0.93
R4200:Etl4	UTSW	2	20,786,694 (GRCm39)	missense	probably damaging	1.00
R4492:Etl4	UTSW	2	20,811,676 (GRCm39)	missense	possibly damaging	0.67
R4514:Etl4	UTSW	2	20,666,709 (GRCm39)	missense	probably damaging	1.00
R4820:Etl4	UTSW	2	20,811,496 (GRCm39)	missense	possibly damaging	0.85
R4825:Etl4	UTSW	2	20,811,738 (GRCm39)	missense	probably damaging	1.00
R4888:Etl4	UTSW	2	20,344,922 (GRCm39)	critical splice donor site	probably null
R4938:Etl4	UTSW	2	20,803,460 (GRCm39)	missense	probably benign	0.00
R4943:Etl4	UTSW	2	20,812,092 (GRCm39)	missense	probably benign	0.05
R5121:Etl4	UTSW	2	20,344,922 (GRCm39)	critical splice donor site	probably null
R5191:Etl4	UTSW	2	20,344,810 (GRCm39)	missense	probably damaging	0.99
R5198:Etl4	UTSW	2	20,718,198 (GRCm39)	missense	probably damaging	1.00
R5199:Etl4	UTSW	2	20,748,853 (GRCm39)	missense	probably damaging	1.00
R5470:Etl4	UTSW	2	20,534,791 (GRCm39)	missense	probably damaging	0.99
R5513:Etl4	UTSW	2	20,748,638 (GRCm39)	missense	probably damaging	1.00
R5620:Etl4	UTSW	2	20,535,037 (GRCm39)	missense	probably damaging	1.00
R5635:Etl4	UTSW	2	20,811,846 (GRCm39)	missense	probably damaging	1.00
R5641:Etl4	UTSW	2	20,811,273 (GRCm39)	frame shift	probably null
R5690:Etl4	UTSW	2	20,810,647 (GRCm39)	missense	probably benign	0.01
R5784:Etl4	UTSW	2	20,811,016 (GRCm39)	missense	possibly damaging	0.79
R5794:Etl4	UTSW	2	20,811,323 (GRCm39)	missense	probably damaging	1.00
R5908:Etl4	UTSW	2	20,748,718 (GRCm39)	missense	probably damaging	0.96
R5982:Etl4	UTSW	2	20,785,826 (GRCm39)	missense	probably damaging	1.00
R6151:Etl4	UTSW	2	20,718,171 (GRCm39)	missense	probably damaging	1.00
R6192:Etl4	UTSW	2	20,806,362 (GRCm39)	missense	probably damaging	0.98
R6238:Etl4	UTSW	2	20,806,379 (GRCm39)	missense	probably damaging	1.00
R6248:Etl4	UTSW	2	20,813,900 (GRCm39)	missense	possibly damaging	0.90
R6292:Etl4	UTSW	2	20,748,384 (GRCm39)	missense	probably damaging	1.00
R6610:Etl4	UTSW	2	20,718,180 (GRCm39)	missense	probably damaging	1.00
R6739:Etl4	UTSW	2	20,718,246 (GRCm39)	missense	probably damaging	1.00
R6846:Etl4	UTSW	2	20,748,919 (GRCm39)	missense	possibly damaging	0.94
R6863:Etl4	UTSW	2	20,811,120 (GRCm39)	missense	probably benign	0.01
R6873:Etl4	UTSW	2	20,802,803 (GRCm39)	splice site	probably null
R7003:Etl4	UTSW	2	20,810,695 (GRCm39)	missense	probably benign	0.03
R7155:Etl4	UTSW	2	20,811,742 (GRCm39)	missense	probably damaging	0.96
R7207:Etl4	UTSW	2	20,714,387 (GRCm39)	missense	probably damaging	0.99
R7230:Etl4	UTSW	2	20,802,799 (GRCm39)	missense	probably damaging	1.00
R7305:Etl4	UTSW	2	20,714,368 (GRCm39)	missense	probably damaging	1.00
R7389:Etl4	UTSW	2	20,789,904 (GRCm39)	nonsense	probably null
R7396:Etl4	UTSW	2	20,803,449 (GRCm39)	missense	possibly damaging	0.62
R7441:Etl4	UTSW	2	20,749,000 (GRCm39)	missense	possibly damaging	0.87
R7626:Etl4	UTSW	2	20,718,189 (GRCm39)	missense	probably damaging	1.00
R7776:Etl4	UTSW	2	20,811,957 (GRCm39)	missense	probably damaging	0.99
R7779:Etl4	UTSW	2	20,714,288 (GRCm39)	missense	probably damaging	1.00
R7798:Etl4	UTSW	2	20,786,757 (GRCm39)	critical splice donor site	probably null
R7851:Etl4	UTSW	2	20,748,951 (GRCm39)	missense	probably damaging	1.00
R7861:Etl4	UTSW	2	20,810,721 (GRCm39)	missense	probably benign
R7901:Etl4	UTSW	2	20,294,821 (GRCm39)	missense	possibly damaging	0.83
R8053:Etl4	UTSW	2	20,666,774 (GRCm39)	missense	probably damaging	1.00
R8124:Etl4	UTSW	2	20,811,451 (GRCm39)	missense	probably benign	0.06
R8133:Etl4	UTSW	2	20,811,082 (GRCm39)	missense	possibly damaging	0.86
R8203:Etl4	UTSW	2	20,789,916 (GRCm39)	missense	possibly damaging	0.61
R8238:Etl4	UTSW	2	20,811,342 (GRCm39)	nonsense	probably null
R8263:Etl4	UTSW	2	20,748,965 (GRCm39)	missense	probably benign	0.00
R8299:Etl4	UTSW	2	20,748,874 (GRCm39)	missense	possibly damaging	0.81
R8318:Etl4	UTSW	2	20,793,341 (GRCm39)	missense	probably damaging	1.00
R8334:Etl4	UTSW	2	20,785,857 (GRCm39)	missense	probably damaging	0.96
R8443:Etl4	UTSW	2	20,810,977 (GRCm39)	missense	probably benign	0.04
R8525:Etl4	UTSW	2	20,534,892 (GRCm39)	missense	probably damaging	1.00
R8679:Etl4	UTSW	2	20,714,288 (GRCm39)	missense	probably damaging	1.00
R8918:Etl4	UTSW	2	20,811,246 (GRCm39)	missense	probably benign	0.00
R8918:Etl4	UTSW	2	20,748,733 (GRCm39)	missense	probably benign
R9062:Etl4	UTSW	2	20,748,616 (GRCm39)	missense	probably damaging	0.99
R9095:Etl4	UTSW	2	20,782,964 (GRCm39)	missense	probably damaging	1.00
R9200:Etl4	UTSW	2	20,786,702 (GRCm39)	missense	probably damaging	1.00
R9416:Etl4	UTSW	2	20,748,784 (GRCm39)	missense	probably benign	0.17
R9437:Etl4	UTSW	2	20,813,872 (GRCm39)	missense	probably benign	0.20
R9451:Etl4	UTSW	2	20,813,926 (GRCm39)	missense	probably benign	0.03
R9489:Etl4	UTSW	2	20,771,345 (GRCm39)	missense	possibly damaging	0.75
R9531:Etl4	UTSW	2	20,294,818 (GRCm39)	start codon destroyed	probably null	0.01
R9605:Etl4	UTSW	2	20,771,345 (GRCm39)	missense	possibly damaging	0.75
R9623:Etl4	UTSW	2	20,811,052 (GRCm39)	missense
R9631:Etl4	UTSW	2	20,666,749 (GRCm39)	missense	probably benign	0.28
R9632:Etl4	UTSW	2	20,666,749 (GRCm39)	missense	probably benign	0.28
R9646:Etl4	UTSW	2	20,802,724 (GRCm39)	missense	probably benign	0.00
R9732:Etl4	UTSW	2	20,748,373 (GRCm39)	missense	probably damaging	0.98
R9755:Etl4	UTSW	2	20,790,048 (GRCm39)	missense	probably benign	0.17
R9771:Etl4	UTSW	2	20,811,537 (GRCm39)	missense	probably benign
RF003:Etl4	UTSW	2	20,524,729 (GRCm39)	nonsense	probably null
X0018:Etl4	UTSW	2	20,814,001 (GRCm39)	missense	probably damaging	0.98
X0022:Etl4	UTSW	2	20,714,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGGTACCATTCTAGAGCTGG -3'
(R):5'- ATTTTACAGTGCGCTCGCTC -3'

Sequencing Primer
(F):5'- AGCTGCTAAGTTGCCGT -3'
(R):5'- CTCCAAGGTGCCAGGAAAG -3'

Posted On

2015-04-29