Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Rtel1'

262760

Institutional Source

Beutler Lab

Gene Symbol

Rtel1

Ensembl Gene

ENSMUSG00000038685

Gene Name

regulator of telomere elongation helicase 1

Synonyms

Nhl, Rtel, KIAA1088, C20ORF41

MMRRC Submission

039460-MU

Accession Numbers

Ncbi RefSeq: NM_001001882.3, NM_001166665.1, NM_001166666.1, NM_001166667.1, NM_001166668.1; MGI: 2139369

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181319739-181356616 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 181335865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000098971] [ENSMUST00000108814] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000108815] [ENSMUST00000148252] [ENSMUST00000148252]

AlphaFold

Q0VGM9

Predicted Effect

probably null
Transcript: ENSMUST00000048608

SMART Domains

Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000048608

SMART Domains

Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000054622

SMART Domains

Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1075	1092	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000054622

SMART Domains

Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1075	1092	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098971

SMART Domains

Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1036	1053	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098971

SMART Domains

Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1036	1053	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108814

SMART Domains

Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1069	1086	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108814

SMART Domains

Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1069	1086	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108815

SMART Domains

Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1030	1047	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108815

SMART Domains

Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
DEXDc	13	292	9.88e-3	SMART
HELICc	563	717	1.07e-62	SMART
low complexity region	1030	1047	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146273

Predicted Effect

probably null
Transcript: ENSMUST00000148252

SMART Domains

Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
Pfam:DEAD_2	1	88	1.3e-33	PFAM
HELICc	379	533	1.07e-62	SMART
low complexity region	858	875	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148252

SMART Domains

Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
Pfam:DEAD_2	1	88	1.3e-33	PFAM
HELICc	379	533	1.07e-62	SMART
low complexity region	858	875	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184751

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

MGI Phenotype

Strain: 3772371; 3052235
Lethality: E11-E12
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal development of the neural tube, brain, heart, vasculature, placenta, and allantois and chromosomal abnormalities in differentiating cells. [provided by MGI curators]

Allele List at MGI

All alleles(33) : Targeted(5) Gene trapped(28)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,341	Q253K	possibly damaging	Het
9330182L06Rik	A	G	5: 9,380,297	Y69C	probably damaging	Het
Abca17	T	C	17: 24,328,537	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736		probably null	Het
Anks1b	A	G	10: 90,050,029	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296		probably benign	Het
C4b	T	A	17: 34,730,719		probably benign	Het
Cacna2d1	G	A	5: 16,357,766	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971		probably benign	Het
Cep63	A	T	9: 102,603,086		probably benign	Het
Chil4	T	A	3: 106,219,509		probably null	Het
Cnot11	A	G	1: 39,545,180	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263		probably benign	Het
Dsc1	A	T	18: 20,088,336	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926		probably benign	Het
Fgfrl1	T	A	5: 108,706,281		probably benign	Het
Gm3159	T	A	14: 4,398,586	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262		probably benign	Het
Grsf1	A	G	5: 88,665,847	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Isg20l2	C	A	3: 87,938,754	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957		probably benign	Het
Lrig3	C	T	10: 126,003,088	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589		probably benign	Het
Neb	T	A	2: 52,289,646	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756	Y428H	possibly damaging	Het
Nrros	A	T	16: 32,143,144	I649N	probably damaging	Het
Nvl	A	T	1: 181,097,126		probably benign	Het
Olfr495	T	A	7: 108,395,501	V127E	probably damaging	Het
Pms1	A	T	1: 53,207,276	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076		probably null	Het
Rps6kc1	T	C	1: 190,800,015	I597V	probably damaging	Het
Scn9a	A	G	2: 66,484,586	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879		probably benign	Het
Sox8	T	C	17: 25,567,883	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468	A405V	probably benign	Het
Uvrag	G	T	7: 99,065,820	Y190*	probably null	Het
Vps13d	A	T	4: 145,099,983	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297	F125L	probably benign	Het

Other mutations in Rtel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Rtel1	APN	2	181354401	missense	probably benign	0.16
IGL01957:Rtel1	APN	2	181349313	unclassified	probably benign
IGL02247:Rtel1	APN	2	181351341	nonsense	probably null
IGL02414:Rtel1	APN	2	181335972	missense	probably benign	0.01
IGL02448:Rtel1	APN	2	181336037	missense	probably benign	0.00
IGL03053:Rtel1	APN	2	181351944	missense	probably benign	0.02
IGL03059:Rtel1	APN	2	181350183	missense	probably benign	0.01
IGL03326:Rtel1	APN	2	181355561	unclassified	probably benign
PIT4283001:Rtel1	UTSW	2	181346890	missense	probably benign	0.00
R0047:Rtel1	UTSW	2	181323405	missense	probably damaging	1.00
R0047:Rtel1	UTSW	2	181323405	missense	probably damaging	1.00
R0051:Rtel1	UTSW	2	181350656	nonsense	probably null
R0051:Rtel1	UTSW	2	181350656	nonsense	probably null
R0147:Rtel1	UTSW	2	181321046	missense	probably damaging	1.00
R0148:Rtel1	UTSW	2	181321046	missense	probably damaging	1.00
R0316:Rtel1	UTSW	2	181356002	missense	possibly damaging	0.87
R0628:Rtel1	UTSW	2	181351881	missense	probably benign	0.03
R0940:Rtel1	UTSW	2	181322803	missense	probably benign	0.36
R1165:Rtel1	UTSW	2	181334939	missense	probably benign	0.26
R1213:Rtel1	UTSW	2	181351335	missense	probably benign	0.01
R1291:Rtel1	UTSW	2	181351043	missense	probably damaging	1.00
R1353:Rtel1	UTSW	2	181349231	missense	probably benign
R1796:Rtel1	UTSW	2	181352103	missense	probably benign	0.01
R1973:Rtel1	UTSW	2	181351626	missense	probably benign	0.04
R2033:Rtel1	UTSW	2	181351863	nonsense	probably null
R2144:Rtel1	UTSW	2	181323706	missense	probably damaging	0.97
R2265:Rtel1	UTSW	2	181354368	missense	probably damaging	1.00
R2269:Rtel1	UTSW	2	181336003	missense	probably benign	0.00
R2416:Rtel1	UTSW	2	181340531	missense	possibly damaging	0.66
R2865:Rtel1	UTSW	2	181349972	missense	probably benign	0.36
R3508:Rtel1	UTSW	2	181322409	missense	probably benign	0.32
R4242:Rtel1	UTSW	2	181349934	missense	probably damaging	1.00
R4377:Rtel1	UTSW	2	181355796	missense	probably damaging	1.00
R4702:Rtel1	UTSW	2	181352169	missense	probably benign	0.30
R4706:Rtel1	UTSW	2	181323746	critical splice donor site	probably null
R4817:Rtel1	UTSW	2	181355935	missense	possibly damaging	0.82
R5020:Rtel1	UTSW	2	181322514	splice site	probably null
R5069:Rtel1	UTSW	2	181355492	missense	probably benign	0.03
R5222:Rtel1	UTSW	2	181346983	intron	probably benign
R5268:Rtel1	UTSW	2	181340561	missense	probably benign	0.03
R5291:Rtel1	UTSW	2	181352095	missense	possibly damaging	0.47
R5588:Rtel1	UTSW	2	181352100	missense	probably benign
R5682:Rtel1	UTSW	2	181349972	missense	probably benign	0.19
R5796:Rtel1	UTSW	2	181340506	missense	probably benign	0.26
R5931:Rtel1	UTSW	2	181330815	nonsense	probably null
R6249:Rtel1	UTSW	2	181351682	missense	probably damaging	1.00
R6465:Rtel1	UTSW	2	181335940	missense	possibly damaging	0.68
R6616:Rtel1	UTSW	2	181352786	missense	possibly damaging	0.68
R6800:Rtel1	UTSW	2	181322463	missense	probably benign	0.31
R6835:Rtel1	UTSW	2	181355953	missense	probably benign	0.04
R6917:Rtel1	UTSW	2	181338277	makesense	probably null
R7264:Rtel1	UTSW	2	181351861	missense	not run
R7381:Rtel1	UTSW	2	181330815	nonsense	probably null
R7523:Rtel1	UTSW	2	181322315	missense	probably damaging	1.00
R7587:Rtel1	UTSW	2	181322315	missense	probably damaging	1.00
R7681:Rtel1	UTSW	2	181322394	missense	probably damaging	0.99
R7871:Rtel1	UTSW	2	181321029	missense	probably damaging	1.00
R7912:Rtel1	UTSW	2	181356076	missense	possibly damaging	0.56
R8007:Rtel1	UTSW	2	181334974	missense	probably damaging	1.00
R8062:Rtel1	UTSW	2	181340567	missense	probably benign	0.17
R8088:Rtel1	UTSW	2	181322345	missense	probably damaging	1.00
R8435:Rtel1	UTSW	2	181354104	missense	possibly damaging	0.93
R8873:Rtel1	UTSW	2	181356023	frame shift	probably null
R9441:Rtel1	UTSW	2	181347067	missense	possibly damaging	0.89
R9704:Rtel1	UTSW	2	181352112	nonsense	probably null

Predicted Primers

Posted On

2015-02-04