Mutagenetix > Incidental Mutation

Incidental Mutation 'R6834:Ell'

534513

Institutional Source

Beutler Lab

Gene Symbol

Ell

Ensembl Gene

ENSMUSG00000070002

Gene Name

elongation factor RNA polymerase II

Synonyms

Men, eleven-nineteen lysine-rich leukemia gene, Ell1

MMRRC Submission

044943-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6834 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70992345-71045508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71031784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 116 (D116G)

Ref Sequence

ENSEMBL: ENSMUSP00000091163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093454] [ENSMUST00000210155]

AlphaFold

O08856

Predicted Effect

probably damaging
Transcript: ENSMUST00000093454
AA Change: D116G

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

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: D116G

Domain	Start	End	E-Value	Type
Pfam:ELL	6	289	2.2e-107	PFAM
low complexity region	403	416	N/A	INTRINSIC
low complexity region	427	445	N/A	INTRINSIC
low complexity region	447	471	N/A	INTRINSIC
Pfam:Occludin_ELL	494	595	6.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210155

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5 but after implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,225,110 (GRCm39)	W530R	possibly damaging	Het
Aco1	A	G	4: 40,164,747 (GRCm39)	K79R	probably benign	Het
Adam15	C	T	3: 89,247,390 (GRCm39)	G426R	probably damaging	Het
Angptl1	A	T	1: 156,672,263 (GRCm39)	I30L	probably benign	Het
Ankrd35	A	G	3: 96,590,599 (GRCm39)	E295G	possibly damaging	Het
Ap5m1	T	A	14: 49,311,194 (GRCm39)	V88E	probably damaging	Het
Astn1	A	T	1: 158,491,692 (GRCm39)	Q47L	probably benign	Het
Atf6b	T	C	17: 34,868,131 (GRCm39)	S135P	probably damaging	Het
AU018091	T	A	7: 3,207,795 (GRCm39)	I589F	probably benign	Het
Cdin1	T	C	2: 115,505,265 (GRCm39)	S179P	probably benign	Het
Cenpf	T	C	1: 189,391,643 (GRCm39)	K730E	probably damaging	Het
Chrna6	C	T	8: 27,898,338 (GRCm39)		probably null	Het
Dmxl1	A	T	18: 50,088,890 (GRCm39)	I2790F	probably damaging	Het
Eml5	A	T	12: 98,853,283 (GRCm39)	H105Q	probably damaging	Het
Epb41l2	T	A	10: 25,369,502 (GRCm39)	V23D	possibly damaging	Het
Gatad2b	T	A	3: 90,255,950 (GRCm39)	S139T	probably benign	Het
Glb1l	A	G	1: 75,178,397 (GRCm39)	V347A	possibly damaging	Het
Gm4846	A	T	1: 166,322,147 (GRCm39)	I140N	possibly damaging	Het
Gng11	A	G	6: 4,008,068 (GRCm39)	I44V	probably benign	Het
Hsd17b8	T	C	17: 34,246,191 (GRCm39)	S161G	probably damaging	Het
Hsp90ab1	T	C	17: 45,881,393 (GRCm39)	I250V	probably benign	Het
Igkv4-79	A	G	6: 69,020,256 (GRCm39)	S20P	probably damaging	Het
Il11ra1	A	G	4: 41,765,454 (GRCm39)	H183R	probably benign	Het
Kcnip3	A	T	2: 127,300,278 (GRCm39)	F252I	probably damaging	Het
Klk12	T	C	7: 43,422,772 (GRCm39)	V233A	possibly damaging	Het
Klk1b11	T	C	7: 43,428,336 (GRCm39)	I242T	probably damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lmod2	A	T	6: 24,597,782 (GRCm39)		probably benign	Het
Loxhd1	T	A	18: 77,529,222 (GRCm39)	V1089E	probably damaging	Het
Lrba	C	T	3: 86,257,593 (GRCm39)	P1286S	probably benign	Het
Lrrc41	T	C	4: 115,953,726 (GRCm39)	V804A	possibly damaging	Het
Lrrc8a	T	A	2: 30,145,659 (GRCm39)	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,880,320 (GRCm39)	M504K	possibly damaging	Het
Med24	A	T	11: 98,595,850 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,385 (GRCm39)	S121G	probably damaging	Het
Mvb12a	G	A	8: 71,997,896 (GRCm39)	M103I	probably benign	Het
Or4k15c	A	G	14: 50,321,685 (GRCm39)	V151A	probably damaging	Het
Or4k2	T	C	14: 50,423,940 (GRCm39)	I245V	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacsin3	T	A	2: 91,093,180 (GRCm39)	M224K	probably damaging	Het
Pam	T	A	1: 97,765,717 (GRCm39)	I771F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pcdhgb8	G	T	18: 37,895,142 (GRCm39)	A71S	probably benign	Het
Poc1b	C	T	10: 99,028,666 (GRCm39)	A336V	probably benign	Het
Prss39	G	T	1: 34,537,697 (GRCm39)	V54F	possibly damaging	Het
Ptar1	A	G	19: 23,695,288 (GRCm39)	T252A	probably benign	Het
Ptprz1	A	G	6: 22,999,632 (GRCm39)	D574G	probably benign	Het
Rnf40	G	A	7: 127,195,578 (GRCm39)	D635N	probably benign	Het
Scn1a	T	A	2: 66,158,086 (GRCm39)	Q429L	probably damaging	Het
Sf1	G	T	19: 6,424,127 (GRCm39)	G386C	probably damaging	Het
Shank2	A	T	7: 143,963,631 (GRCm39)	Y623F	probably damaging	Het
Slc9a5	G	T	8: 106,091,316 (GRCm39)	A699S	probably benign	Het
Sox9	A	T	11: 112,674,826 (GRCm39)	Q208L	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Szt2	A	G	4: 118,245,522 (GRCm39)	S1097P	probably benign	Het
Tmc1	C	A	19: 20,772,974 (GRCm39)	E676*	probably null	Het
Ubr3	T	C	2: 69,830,825 (GRCm39)	I158T	possibly damaging	Het
Ush2a	T	C	1: 188,088,989 (GRCm39)	Y315H	probably damaging	Het
Vmn1r85	T	C	7: 12,818,571 (GRCm39)	D191G	probably damaging	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zfp358	A	G	8: 3,545,613 (GRCm39)	D92G	probably benign	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	Het
Zpld2	A	C	4: 133,920,476 (GRCm39)	V563G	possibly damaging	Het

Other mutations in Ell

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Ell	APN	8	71,031,563 (GRCm39)	missense	probably damaging	1.00
IGL01666:Ell	APN	8	71,038,463 (GRCm39)	missense	probably benign
IGL01738:Ell	APN	8	71,034,331 (GRCm39)	unclassified	probably benign
IGL02032:Ell	APN	8	71,038,651 (GRCm39)	missense	probably benign
PIT4418001:Ell	UTSW	8	71,034,331 (GRCm39)	missense	probably damaging	0.96
R1403:Ell	UTSW	8	71,044,138 (GRCm39)	unclassified	probably benign
R1735:Ell	UTSW	8	71,031,590 (GRCm39)	missense	possibly damaging	0.88
R4164:Ell	UTSW	8	71,034,223 (GRCm39)	missense	probably damaging	1.00
R4705:Ell	UTSW	8	71,031,584 (GRCm39)	missense	possibly damaging	0.92
R5028:Ell	UTSW	8	71,043,349 (GRCm39)	missense	probably damaging	1.00
R5350:Ell	UTSW	8	70,992,439 (GRCm39)	missense	probably damaging	1.00
R5590:Ell	UTSW	8	70,992,357 (GRCm39)	start codon destroyed	possibly damaging	0.59
R5615:Ell	UTSW	8	71,043,382 (GRCm39)	missense	probably benign	0.04
R6333:Ell	UTSW	8	71,044,188 (GRCm39)	missense	probably damaging	1.00
R6490:Ell	UTSW	8	71,025,553 (GRCm39)	missense	probably damaging	0.99
R7029:Ell	UTSW	8	71,031,879 (GRCm39)	missense	probably damaging	0.99
R7162:Ell	UTSW	8	71,031,559 (GRCm39)	missense	possibly damaging	0.82
R7477:Ell	UTSW	8	71,037,868 (GRCm39)	missense	probably benign	0.01
R7702:Ell	UTSW	8	70,992,364 (GRCm39)	missense	possibly damaging	0.73
R8711:Ell	UTSW	8	71,034,331 (GRCm39)	unclassified	probably benign
R9004:Ell	UTSW	8	71,031,604 (GRCm39)	missense	probably damaging	0.98
Z1176:Ell	UTSW	8	71,031,577 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAACAATATGTATCCAGGTAAGTC -3'
(R):5'- TGGACAGATATCCCCTGCCTAG -3'

Sequencing Primer
(F):5'- GGTAAGTCTACCTGCCCTCAG -3'
(R):5'- AGCACGTGCCCAAGCTTC -3'

Posted On

2018-09-12