Mutagenetix > Incidental Mutations

Incidental Mutation 'R1973:Rtel1'

221198

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

039986-MU

Accession Numbers

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181319739-181356616 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181351626 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 731 (Y731C)

Ref Sequence

ENSEMBL: ENSMUSP00000104443 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048608
AA Change: Y731C

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
AA Change: Y731C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054622
AA Change: Y731C

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
AA Change: Y731C

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 benign
Transcript: ENSMUST00000098971
AA Change: Y731C

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
AA Change: Y731C

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 benign
Transcript: ENSMUST00000108814
AA Change: Y731C

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
AA Change: Y731C

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 benign
Transcript: ENSMUST00000108815
AA Change: Y731C

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
AA Change: Y731C

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: ENSMUST00000124149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130935

Predicted Effect

probably benign
Transcript: ENSMUST00000133856

Predicted Effect

probably benign
Transcript: ENSMUST00000134651

Predicted Effect

probably benign
Transcript: ENSMUST00000137700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139601

Predicted Effect

probably benign
Transcript: ENSMUST00000148252
AA Change: Y547C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116159
Gene: ENSMUSG00000038685
AA Change: Y547C

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

noncoding transcript
Transcript: ENSMUST00000146273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139608

Predicted Effect

probably benign
Transcript: ENSMUST00000184751

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,812,746	I143L	probably benign	Het
Acp7	T	A	7: 28,607,989	D481V	probably damaging	Het
AI597479	T	A	1: 43,111,126	I132K	probably benign	Het
Anxa13	T	C	15: 58,356,181		noncoding transcript	Het
Brca1	A	T	11: 101,526,403	C302S	probably benign	Het
Brd8	T	A	18: 34,608,013	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,459,777	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,102,563	C294S	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Chat	C	T	14: 32,424,191	V342I	probably benign	Het
Chd6	A	G	2: 160,966,387	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,924,834		probably null	Het
Col6a3	A	T	1: 90,804,175	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,131,698	V54A	probably benign	Het
Dnah1	C	T	14: 31,265,391	W3550*	probably null	Het
Dscr3	T	C	16: 94,501,546	N267S	probably damaging	Het
Efl1	T	C	7: 82,762,877	S825P	probably damaging	Het
Fam189a1	A	T	7: 64,775,768	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405	E350K	probably benign	Het
Frem2	T	A	3: 53,652,232	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,603,286	T6A	probably benign	Het
Gm5814	A	T	17: 47,410,549	M63L	probably benign	Het
Gpr149	T	C	3: 62,530,795	K647R	probably benign	Het
Iqgap3	T	A	3: 88,083,928		probably null	Het
Kcnh3	T	C	15: 99,229,400	V359A	probably damaging	Het
Kit	G	A	5: 75,615,442	A295T	probably damaging	Het
Krt77	G	T	15: 101,861,244	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,149,076	S638*	probably null	Het
Neurl4	C	T	11: 69,909,292	P1091S	probably benign	Het
Nod2	A	T	8: 88,652,873	M8L	probably damaging	Het
Nos1	A	G	5: 117,936,426	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,505,414	S202I	probably damaging	Het
Nuak2	A	T	1: 132,330,602	H257L	probably damaging	Het
Nwd1	T	C	8: 72,704,962	V1195A	possibly damaging	Het
Olfr243	T	A	7: 103,716,597	M1K	probably null	Het
Olfr370	T	C	8: 83,541,792	V216A	probably benign	Het
Olfr693	T	C	7: 106,678,219	D89G	probably benign	Het
Olfr889	T	A	9: 38,116,567	M257K	possibly damaging	Het
Olfr919	A	G	9: 38,697,868	V170A	probably damaging	Het
Pclo	G	T	5: 14,676,059		probably null	Het
Pnpla7	A	G	2: 25,016,617	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,576,934	T105I	probably benign	Het
Ptger1	C	A	8: 83,669,454	T380K	probably benign	Het
Ptk7	G	A	17: 46,586,807	Q282*	probably null	Het
Ptpn18	G	T	1: 34,463,109	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,024,391	D589G	probably damaging	Het
Rara	A	G	11: 98,971,670	N299S	possibly damaging	Het
Rpl13a	T	A	7: 45,125,995	K368*	probably null	Het
Rslcan18	T	C	13: 67,108,023		probably benign	Het
Sec16a	A	T	2: 26,426,489	S1666R	probably damaging	Het
Sis	A	G	3: 72,921,004	F1217S	probably damaging	Het
Slc10a7	T	A	8: 78,697,333		probably null	Het
Slc22a7	A	G	17: 46,437,090	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,663,605	I249V	probably benign	Het
Slc38a4	T	C	15: 96,999,597	K446E	probably benign	Het
Sned1	G	A	1: 93,265,073	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,066	*876C	probably null	Het
Spink11	A	G	18: 44,196,138	C14R	unknown	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Tnfaip3	T	C	10: 19,004,504	N605S	probably damaging	Het
Trpc1	A	G	9: 95,723,255	M283T	probably benign	Het
Ttn	A	G	2: 76,714,362	S32799P	probably damaging	Het
Ttn	A	G	2: 76,720,099	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 88,056,047	Y189F	probably damaging	Het
Usp32	G	T	11: 85,103,931	L52I	probably benign	Het
Usp33	A	G	3: 152,360,286	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,025,026	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Wdr43	A	G	17: 71,640,240	N364D	probably benign	Het
Zdbf2	C	A	1: 63,309,701	P2413Q	unknown	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
R1398:Rtel1	UTSW	2	181335865	splice site	probably null
R1796:Rtel1	UTSW	2	181352103	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- ACAATCCTCCCCTGTAGGAAG -3'
(R):5'- GGAACTGGCAAAGGCATCTG -3'

Sequencing Primer
(F):5'- TCCCCTGTAGGAAGCCTATAG -3'
(R):5'- CTGGCAAAGGCATCTGTAGAATC -3'

Posted On

2014-08-25