Mutagenetix > Incidental Mutation

Incidental Mutation 'R2392:Elp5'

247820

Institutional Source

Beutler Lab

Gene Symbol

Elp5

Ensembl Gene

ENSMUSG00000018565

Gene Name

elongator acetyltransferase complex subunit 5

Synonyms

Rai12, Clone 13u

MMRRC Submission

040360-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R2392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69859050-69872352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69865928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 116 (H116R)

Ref Sequence

ENSEMBL: ENSMUSP00000104235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108594] [ENSMUST00000108595] [ENSMUST00000142788] [ENSMUST00000143175] [ENSMUST00000147437]

AlphaFold

Q99L85

Predicted Effect

probably benign
Transcript: ENSMUST00000108594
AA Change: H116R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565
AA Change: H116R

Domain	Start	End	E-Value	Type
Pfam:Elong_Iki1	1	201	1.1e-12	PFAM
Pfam:Elong_Iki1	205	282	3.8e-10	PFAM
low complexity region	283	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108595
AA Change: H116R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104236
Gene: ENSMUSG00000018565
AA Change: H116R

Domain	Start	End	E-Value	Type
Pfam:Elong_Iki1	1	139	9.2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123701

Predicted Effect

probably benign
Transcript: ENSMUST00000127437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138562

Predicted Effect

probably benign
Transcript: ENSMUST00000142788

SMART Domains

Protein: ENSMUSP00000136063
Gene: ENSMUSG00000018565

Domain	Start	End	E-Value	Type
Pfam:Elong_Iki1	1	63	1.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143788

Predicted Effect

probably benign
Transcript: ENSMUST00000147437

SMART Domains

Protein: ENSMUSP00000117394
Gene: ENSMUSG00000018565

Domain	Start	End	E-Value	Type
Pfam:Elong_Iki1	1	115	1.7e-24	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,297,264 (GRCm39)	S2409T	probably damaging	Het
Acap2	A	G	16: 30,958,458 (GRCm39)	F120S	probably damaging	Het
Akr1c6	A	G	13: 4,484,477 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,963,573 (GRCm39)	A1874S	probably damaging	Het
Ccnl1	A	G	3: 65,856,173 (GRCm39)	V244A	probably damaging	Het
Cenpe	T	G	3: 134,953,874 (GRCm39)	L1628R	probably damaging	Het
Cfap54	A	G	10: 92,860,873 (GRCm39)		probably null	Het
Chchd7	T	A	4: 3,943,381 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crybg2	G	T	4: 133,799,925 (GRCm39)	V362L	probably benign	Het
Ddx11	T	A	17: 66,456,968 (GRCm39)	V791E	probably damaging	Het
Disp1	G	A	1: 182,868,731 (GRCm39)	P1230S	probably benign	Het
Epb42	T	C	2: 120,860,468 (GRCm39)	E177G	possibly damaging	Het
F13a1	T	A	13: 37,127,971 (GRCm39)	I336F	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcsk	A	G	8: 111,616,356 (GRCm39)	M453T	probably benign	Het
Hacd2	A	T	16: 34,926,748 (GRCm39)	E249V	probably benign	Het
Hnrnpf	C	A	6: 117,901,829 (GRCm39)	A371D	possibly damaging	Het
Jmjd1c	A	G	10: 67,065,683 (GRCm39)	T1703A	probably damaging	Het
Kcnj13	G	A	1: 87,314,622 (GRCm39)	T200I	possibly damaging	Het
Kif1b	G	A	4: 149,305,077 (GRCm39)	T949M	possibly damaging	Het
Klhl35	G	A	7: 99,123,031 (GRCm39)	A552T	possibly damaging	Het
Krt74	A	G	15: 101,665,236 (GRCm39)		noncoding transcript	Het
Krtap14	T	A	16: 88,622,597 (GRCm39)		probably null	Het
Lrrc45	A	G	11: 120,610,365 (GRCm39)	N492S	probably benign	Het
Lrrcc1	T	A	3: 14,601,580 (GRCm39)	N114K	probably damaging	Het
Mfsd2b	T	C	12: 4,915,164 (GRCm39)	D375G	possibly damaging	Het
Mgat4a	A	G	1: 37,537,785 (GRCm39)	L44P	probably damaging	Het
Mttp	A	C	3: 137,800,782 (GRCm39)	D774E	probably damaging	Het
Myo5a	T	C	9: 75,116,521 (GRCm39)	V1554A	probably benign	Het
Nes	C	T	3: 87,883,250 (GRCm39)	A503V	probably benign	Het
Nme8	A	G	13: 19,873,113 (GRCm39)		probably null	Het
Nr4a1	A	G	15: 101,172,075 (GRCm39)	D583G	possibly damaging	Het
Or12d17	A	G	17: 37,777,310 (GRCm39)	Y71C	probably damaging	Het
Or5k14	A	G	16: 58,692,797 (GRCm39)	S239P	probably damaging	Het
Pnpla8	T	A	12: 44,358,287 (GRCm39)	L746I	probably damaging	Het
Ppp1r7	A	T	1: 93,282,063 (GRCm39)	I205F	probably benign	Het
Psd4	C	A	2: 24,284,679 (GRCm39)	P181Q	probably damaging	Het
Ripor2	G	A	13: 24,890,206 (GRCm39)	V694I	probably benign	Het
Scn10a	A	G	9: 119,456,268 (GRCm39)	S1185P	possibly damaging	Het
Sec23b	T	A	2: 144,427,507 (GRCm39)		probably null	Het
Slfn2	A	G	11: 82,956,154 (GRCm39)	N12S	possibly damaging	Het
Slfn4	A	G	11: 83,076,248 (GRCm39)	K38R	possibly damaging	Het
Smarca2	G	T	19: 26,618,050 (GRCm39)		probably null	Het
Taar4	A	G	10: 23,837,172 (GRCm39)	T261A	possibly damaging	Het
Tbl2	A	G	5: 135,185,368 (GRCm39)	D159G	probably benign	Het
Tmem120a	T	C	5: 135,770,892 (GRCm39)	E55G	probably damaging	Het
Ttc21b	A	G	2: 66,037,794 (GRCm39)		probably null	Het
Vill	A	T	9: 118,896,628 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,487,130 (GRCm39)	M511K	probably damaging	Het
Vmn2r81	A	T	10: 79,110,516 (GRCm39)	D543V	probably damaging	Het
Wdr95	A	G	5: 149,504,135 (GRCm39)	T314A	probably benign	Het
Zbtb8b	A	G	4: 129,326,982 (GRCm39)	I61T	probably damaging	Het

Other mutations in Elp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Elp5	APN	11	69,859,248 (GRCm39)	unclassified	probably benign
IGL01295:Elp5	APN	11	69,859,296 (GRCm39)	unclassified	probably benign
IGL01405:Elp5	APN	11	69,859,962 (GRCm39)	missense	probably damaging	0.97
PIT1430001:Elp5	UTSW	11	69,857,935 (GRCm39)	critical splice donor site	probably null
R0367:Elp5	UTSW	11	69,865,967 (GRCm39)	missense	probably benign	0.01
R1376:Elp5	UTSW	11	69,865,916 (GRCm39)	missense	probably benign	0.00
R1376:Elp5	UTSW	11	69,865,916 (GRCm39)	missense	probably benign	0.00
R4175:Elp5	UTSW	11	69,861,388 (GRCm39)	missense	probably null	0.90
R4176:Elp5	UTSW	11	69,861,388 (GRCm39)	missense	probably null	0.90
R4650:Elp5	UTSW	11	69,860,398 (GRCm39)	missense	possibly damaging	0.69
R4988:Elp5	UTSW	11	69,870,668 (GRCm39)	missense	probably benign	0.03
R7695:Elp5	UTSW	11	69,860,327 (GRCm39)	missense	probably benign	0.10
R7878:Elp5	UTSW	11	69,861,425 (GRCm39)	missense	probably damaging	0.98
R9688:Elp5	UTSW	11	69,861,425 (GRCm39)	missense	probably damaging	0.98
X0024:Elp5	UTSW	11	69,861,425 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCCAAAAGGAAACGACAGAATGT -3'
(R):5'- TTGGTGAAAATTGAGAAAGAGTCCA -3'

Sequencing Primer
(F):5'- GAATGTCAGACTGGAGATCCCC -3'
(R):5'- AAGAAGTTTGAGGTTGTAATGTGTC -3'

Posted On

2014-11-11