Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:Nelfa'

84519

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nelfa

Ensembl Gene

ENSMUSG00000029111

Gene Name

negative elongation factor complex member A, Whsc2

Synonyms

Whsc2h, Nelf-A, Whsc2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

34055263-34093615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34056146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 506 (T506A)

Ref Sequence

ENSEMBL: ENSMUSP00000030993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030993] [ENSMUST00000058096] [ENSMUST00000066854] [ENSMUST00000075812] [ENSMUST00000137191] [ENSMUST00000139845] [ENSMUST00000202525]

AlphaFold

Q8BG30

Predicted Effect

probably damaging
Transcript: ENSMUST00000030993
AA Change: T506A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030993
Gene: ENSMUSG00000029111
AA Change: T506A

Domain	Start	End	E-Value	Type
low complexity region	54	63	N/A	INTRINSIC
low complexity region	280	294	N/A	INTRINSIC
low complexity region	315	333	N/A	INTRINSIC
low complexity region	339	365	N/A	INTRINSIC
low complexity region	383	429	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058096

SMART Domains

Protein: ENSMUSP00000058940
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	629	643	N/A	INTRINSIC
PHD	669	711	1.36e-6	SMART
RING	670	710	1.5e1	SMART
PHD	716	763	6.81e-1	SMART
RING	717	762	5.25e-2	SMART
PHD	833	873	2.35e-10	SMART
PWWP	878	940	2.67e-23	SMART
AWS	1011	1062	3.74e-27	SMART
SET	1063	1186	4.48e-43	SMART
PostSET	1187	1203	7.56e-4	SMART
low complexity region	1215	1236	N/A	INTRINSIC
PHD	1241	1284	1.98e-8	SMART
low complexity region	1347	1360	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066854

SMART Domains

Protein: ENSMUSP00000067205
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	630	644	N/A	INTRINSIC
PHD	670	712	1.36e-6	SMART
RING	671	711	1.5e1	SMART
PHD	717	764	6.81e-1	SMART
RING	718	763	5.25e-2	SMART
PHD	834	874	2.35e-10	SMART
PWWP	879	941	2.67e-23	SMART
AWS	1012	1063	3.74e-27	SMART
SET	1064	1187	4.48e-43	SMART
PostSET	1188	1204	7.56e-4	SMART
low complexity region	1216	1237	N/A	INTRINSIC
PHD	1242	1285	1.98e-8	SMART
low complexity region	1348	1361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075812

SMART Domains

Protein: ENSMUSP00000075210
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	630	644	N/A	INTRINSIC
PHD	670	712	1.36e-6	SMART
RING	671	711	1.5e1	SMART
PHD	717	764	6.81e-1	SMART
RING	718	763	5.25e-2	SMART
PHD	834	874	2.35e-10	SMART
PWWP	879	941	2.67e-23	SMART
AWS	1012	1063	3.74e-27	SMART
SET	1064	1187	4.48e-43	SMART
PostSET	1188	1204	7.56e-4	SMART
low complexity region	1216	1237	N/A	INTRINSIC
PHD	1242	1285	1.98e-8	SMART
low complexity region	1348	1361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137191

SMART Domains

Protein: ENSMUSP00000122310
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139845

SMART Domains

Protein: ENSMUSP00000123460
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141416

SMART Domains

Protein: ENSMUSP00000117233
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
Pfam:PWWP	202	314	1.1e-25	PFAM
low complexity region	379	390	N/A	INTRINSIC
HMG	434	504	4.7e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201572

Predicted Effect

probably benign
Transcript: ENSMUST00000202525

SMART Domains

Protein: ENSMUSP00000144255
Gene: ENSMUSG00000057406

Domain	Start	End	E-Value	Type
PHD	11	53	8.5e-9	SMART
RING	12	52	7.3e-2	SMART
PHD	58	105	4.4e-3	SMART
RING	59	104	2.6e-4	SMART
PHD	175	215	1.5e-12	SMART
low complexity region	248	259	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,247,767 (GRCm39)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,779 (GRCm39)		probably benign	Het
2610303G11Rik	T	A	9: 98,068,762 (GRCm39)		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,823,417 (GRCm39)	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,433,672 (GRCm39)	E34K	probably damaging	Het
Alms1	T	A	6: 85,654,881 (GRCm39)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,566,276 (GRCm39)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,356,256 (GRCm39)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,841,527 (GRCm39)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,300,555 (GRCm39)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,079,548 (GRCm39)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,421,134 (GRCm39)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,441,132 (GRCm39)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,756,389 (GRCm39)		probably benign	Het
Erich1	G	T	8: 14,128,853 (GRCm39)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,636,686 (GRCm39)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,575,045 (GRCm39)	A188E	probably benign	Het
Fign	A	G	2: 63,810,032 (GRCm39)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,378,550 (GRCm39)	S33P	probably damaging	Het
Glb1	A	G	9: 114,279,745 (GRCm39)		probably benign	Het
H2-Q1	T	C	17: 35,542,437 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,875,770 (GRCm39)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,513,890 (GRCm39)	E32G	probably damaging	Het
Ints5	C	T	19: 8,872,851 (GRCm39)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,785,337 (GRCm39)	E847*	probably null	Het
Kcns3	A	C	12: 11,141,644 (GRCm39)	S352A	possibly damaging	Het
Kiz	A	G	2: 146,705,721 (GRCm39)	K94E	probably benign	Het
Lin7b	C	T	7: 45,018,624 (GRCm39)	V12M	probably damaging	Het
Myo18b	A	T	5: 112,959,570 (GRCm39)	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,777,161 (GRCm39)	H407R	probably damaging	Het
Or10p21	A	G	10: 128,847,729 (GRCm39)	T192A	probably damaging	Het
Or4d5	A	T	9: 40,012,378 (GRCm39)	M136K	probably damaging	Het
Or5p72	T	A	7: 108,022,235 (GRCm39)	Y152*	probably null	Het
Or6c69	A	G	10: 129,748,114 (GRCm39)	I11T	possibly damaging	Het
Pclo	A	C	5: 14,726,408 (GRCm39)		probably benign	Het
Pes1	G	A	11: 3,927,979 (GRCm39)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,568,315 (GRCm39)		probably benign	Het
Rapgef2	T	C	3: 78,976,244 (GRCm39)	M1521V	probably benign	Het
Rapgef2	C	T	3: 79,011,269 (GRCm39)		probably null	Het
Reln	A	G	5: 22,245,403 (GRCm39)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,835,902 (GRCm39)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,101,013 (GRCm39)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,373 (GRCm39)	R918S	probably benign	Het
St3gal4	T	C	9: 34,963,627 (GRCm39)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm39)		probably null	Het
Stxbp5l	T	C	16: 37,036,341 (GRCm39)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,607,262 (GRCm39)	T231A	probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tnks	A	G	8: 35,307,136 (GRCm39)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,832,719 (GRCm39)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,473,142 (GRCm39)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,229,578 (GRCm39)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,787,362 (GRCm39)	Q176L	possibly damaging	Het

Other mutations in Nelfa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0590:Nelfa	UTSW	5	34,059,169 (GRCm39)	missense	probably damaging	1.00
R0613:Nelfa	UTSW	5	34,060,807 (GRCm39)	splice site	probably benign
R1533:Nelfa	UTSW	5	34,056,215 (GRCm39)	missense	probably damaging	0.98
R2181:Nelfa	UTSW	5	34,057,853 (GRCm39)	missense	probably benign	0.43
R4246:Nelfa	UTSW	5	34,056,373 (GRCm39)	missense	probably damaging	1.00
R4398:Nelfa	UTSW	5	34,058,623 (GRCm39)	missense	possibly damaging	0.66
R4657:Nelfa	UTSW	5	34,059,157 (GRCm39)	missense	probably benign	0.08
R4973:Nelfa	UTSW	5	34,059,162 (GRCm39)	missense	probably benign	0.04
R5424:Nelfa	UTSW	5	34,079,189 (GRCm39)	critical splice donor site	probably null
R5614:Nelfa	UTSW	5	34,077,844 (GRCm39)	missense	probably damaging	1.00
R5737:Nelfa	UTSW	5	34,056,457 (GRCm39)	critical splice acceptor site	probably null
R6135:Nelfa	UTSW	5	34,056,620 (GRCm39)	splice site	probably null
R6153:Nelfa	UTSW	5	34,056,223 (GRCm39)	missense	probably damaging	1.00
R7231:Nelfa	UTSW	5	34,056,169 (GRCm39)	missense	probably damaging	1.00
R8168:Nelfa	UTSW	5	34,079,251 (GRCm39)	missense	possibly damaging	0.88
R8175:Nelfa	UTSW	5	34,079,357 (GRCm39)	missense	possibly damaging	0.86
R8446:Nelfa	UTSW	5	34,058,982 (GRCm39)	missense	probably damaging	0.99
R8971:Nelfa	UTSW	5	34,093,539 (GRCm39)	missense	possibly damaging	0.92
R9474:Nelfa	UTSW	5	34,056,095 (GRCm39)	missense	probably damaging	1.00
R9616:Nelfa	UTSW	5	34,059,127 (GRCm39)	missense	possibly damaging	0.66

Posted On

2013-11-11