Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Rtel1'

236587

Institutional Source

Beutler Lab

Gene Symbol

Rtel1

Ensembl Gene

ENSMUSG00000038685

Gene Name

regulator of telomere elongation helicase 1

Synonyms

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180961532-180998409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180965499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 167 (V167E)

Ref Sequence

ENSEMBL: ENSMUSP00000104443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048608] [ENSMUST00000054622] [ENSMUST00000098971] [ENSMUST00000108814] [ENSMUST00000108815] [ENSMUST00000153112] [ENSMUST00000148252]

AlphaFold

Q0VGM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048608
AA Change: V167E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
AA Change: V167E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054622
AA Change: V167E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
AA Change: V167E

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 damaging
Transcript: ENSMUST00000098971
AA Change: V167E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
AA Change: V167E

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 damaging
Transcript: ENSMUST00000108814
AA Change: V167E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
AA Change: V167E

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 damaging
Transcript: ENSMUST00000108815
AA Change: V167E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
AA Change: V167E

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: ENSMUST00000139608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146273

Predicted Effect

probably benign
Transcript: ENSMUST00000153112

SMART Domains

Protein: ENSMUSP00000118810
Gene: ENSMUSG00000038685

Domain	Start	End	E-Value	Type
Pfam:ResIII	14	101	1.8e-7	PFAM
Pfam:DEAD_2	111	161	3.3e-16	PFAM

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

MGI Phenotype

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
Acsl6	A	T	11: 54,232,604 (GRCm39)	Q485L	probably damaging	Het
Adam5	C	A	8: 25,305,496 (GRCm39)	V81F	probably benign	Het
Aoc1l1	A	G	6: 48,952,225 (GRCm39)	H50R	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cap2	A	T	13: 46,713,978 (GRCm39)		probably null	Het
Ccnk	T	A	12: 108,155,349 (GRCm39)	L102Q	probably null	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdc123	A	T	2: 5,815,617 (GRCm39)	I160K	probably benign	Het
Cep85l	T	C	10: 53,234,222 (GRCm39)	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,029,440 (GRCm39)	T298I	probably benign	Het
Cpsf4	G	T	5: 145,115,572 (GRCm39)	S192I	probably benign	Het
Cpxm1	A	G	2: 130,239,330 (GRCm39)	S33P	probably benign	Het
Cyp2a12	A	T	7: 26,734,194 (GRCm39)	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,894 (GRCm39)	F137S	probably damaging	Het
Des	A	G	1: 75,343,448 (GRCm39)	T444A	probably benign	Het
Dgcr8	C	T	16: 18,102,120 (GRCm39)	G54D	probably damaging	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Ep400	A	T	5: 110,851,384 (GRCm39)	M1366K	unknown	Het
Epg5	G	T	18: 77,997,412 (GRCm39)	C425F	possibly damaging	Het
Epha3	C	G	16: 63,593,680 (GRCm39)	R136P	possibly damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fam186b	A	G	15: 99,178,538 (GRCm39)	Y263H	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Gart	A	T	16: 91,426,969 (GRCm39)	I555N	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gnptab	C	T	10: 88,264,368 (GRCm39)	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,408,243 (GRCm39)	V263A	probably benign	Het
Gxylt1	T	C	15: 93,152,361 (GRCm39)	I224V	probably benign	Het
H2-Aa	A	G	17: 34,502,801 (GRCm39)	S122P	probably damaging	Het
Hsph1	A	C	5: 149,553,802 (GRCm39)		probably null	Het
Hunk	G	A	16: 90,229,420 (GRCm39)	D94N	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Ints10	A	G	8: 69,249,457 (GRCm39)	T96A	probably damaging	Het
Kansl2	A	T	15: 98,424,512 (GRCm39)	V306E	probably benign	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Ktn1	A	G	14: 47,952,109 (GRCm39)	E983G	probably damaging	Het
Lrrk1	G	A	7: 65,945,911 (GRCm39)	S566L	probably damaging	Het
M6pr	A	G	6: 122,292,326 (GRCm39)	M174V	probably benign	Het
Man2a2	A	G	7: 80,013,264 (GRCm39)	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,922,059 (GRCm39)	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,311,533 (GRCm39)		probably null	Het
Mrgpra9	T	C	7: 46,885,211 (GRCm39)	E152G	probably benign	Het
Mst1r	T	C	9: 107,790,367 (GRCm39)	V660A	probably benign	Het
Myof	A	G	19: 37,969,669 (GRCm39)		probably null	Het
Myrf	G	A	19: 10,206,038 (GRCm39)	P126L	probably benign	Het
Nckap1l	C	T	15: 103,384,103 (GRCm39)	A567V	probably damaging	Het
Nphs1	A	G	7: 30,160,395 (GRCm39)	E169G	probably benign	Het
Npy1r	T	A	8: 67,157,836 (GRCm39)	V382D	probably benign	Het
Nrl	A	T	14: 55,758,307 (GRCm39)	M140K	possibly damaging	Het
Odad2	C	T	18: 7,127,229 (GRCm39)	E995K	probably damaging	Het
Or14c39	T	A	7: 86,344,488 (GRCm39)	F275I	probably damaging	Het
Or2ag1b	A	T	7: 106,288,164 (GRCm39)	M258K	probably damaging	Het
Or4f56	A	G	2: 111,703,768 (GRCm39)	I144T	probably damaging	Het
Or5ac17	C	T	16: 59,036,389 (GRCm39)	V196M	probably benign	Het
Or8d2	C	T	9: 38,759,635 (GRCm39)	T75I	probably damaging	Het
Orc5	T	A	5: 22,752,925 (GRCm39)	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 13,004,230 (GRCm39)	S396T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pclo	C	T	5: 14,908,766 (GRCm39)	L5025F	unknown	Het
Pde3a	T	C	6: 141,435,837 (GRCm39)	V924A	probably benign	Het
Pdpr	A	G	8: 111,844,668 (GRCm39)	N355S	probably damaging	Het
Pepd	A	T	7: 34,620,843 (GRCm39)	K36M	probably benign	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pik3r6	T	A	11: 68,434,437 (GRCm39)	L546*	probably null	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Primpol	A	T	8: 47,039,378 (GRCm39)	M414K	probably damaging	Het
Prol1	A	T	5: 88,476,254 (GRCm39)	T215S	unknown	Het
Prss22	A	G	17: 24,213,656 (GRCm39)	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,230,524 (GRCm39)	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rbm26	T	A	14: 105,352,638 (GRCm39)	R1009*	probably null	Het
Rbm42	A	G	7: 30,340,535 (GRCm39)	*450Q	probably null	Het
Rere	T	C	4: 150,701,388 (GRCm39)	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,555,797 (GRCm39)	L15F	probably damaging	Het
Rnf213	T	C	11: 119,334,516 (GRCm39)	S3242P	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,457,893 (GRCm39)	L203P	probably damaging	Het
Skint6	T	C	4: 113,093,457 (GRCm39)	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,755,104 (GRCm39)	Y566C	probably damaging	Het
Smgc	T	G	15: 91,728,624 (GRCm39)	D121E	possibly damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
St7	A	T	6: 17,886,006 (GRCm39)	N52I	possibly damaging	Het
Sycn	C	A	7: 28,240,494 (GRCm39)	Q54K	probably benign	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,619,738 (GRCm39)	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,449,363 (GRCm39)	Y443H	probably damaging	Het
Tmem200c	A	T	17: 69,149,244 (GRCm39)	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,535,614 (GRCm39)	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,301,598 (GRCm39)	V23G	possibly damaging	Het
Trhr	T	C	15: 44,060,579 (GRCm39)	V33A	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Trnt1	A	G	6: 106,755,000 (GRCm39)	K244E	probably damaging	Het
Tsfm	G	A	10: 126,864,314 (GRCm39)	Q134*	probably null	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,603,690 (GRCm39)	L623F	probably damaging	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,925,949 (GRCm39)		probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp592	A	G	7: 80,687,950 (GRCm39)	T959A	probably benign	Het

Other mutations in Rtel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Rtel1	APN	2	180,996,194 (GRCm39)	missense	probably benign	0.16
IGL01957:Rtel1	APN	2	180,991,106 (GRCm39)	unclassified	probably benign
IGL02247:Rtel1	APN	2	180,993,134 (GRCm39)	nonsense	probably null
IGL02414:Rtel1	APN	2	180,977,765 (GRCm39)	missense	probably benign	0.01
IGL02448:Rtel1	APN	2	180,977,830 (GRCm39)	missense	probably benign	0.00
IGL03053:Rtel1	APN	2	180,993,737 (GRCm39)	missense	probably benign	0.02
IGL03059:Rtel1	APN	2	180,991,976 (GRCm39)	missense	probably benign	0.01
IGL03326:Rtel1	APN	2	180,997,354 (GRCm39)	unclassified	probably benign
PIT4283001:Rtel1	UTSW	2	180,988,683 (GRCm39)	missense	probably benign	0.00
R0047:Rtel1	UTSW	2	180,965,198 (GRCm39)	missense	probably damaging	1.00
R0047:Rtel1	UTSW	2	180,965,198 (GRCm39)	missense	probably damaging	1.00
R0051:Rtel1	UTSW	2	180,992,449 (GRCm39)	nonsense	probably null
R0051:Rtel1	UTSW	2	180,992,449 (GRCm39)	nonsense	probably null
R0147:Rtel1	UTSW	2	180,962,839 (GRCm39)	missense	probably damaging	1.00
R0148:Rtel1	UTSW	2	180,962,839 (GRCm39)	missense	probably damaging	1.00
R0316:Rtel1	UTSW	2	180,997,795 (GRCm39)	missense	possibly damaging	0.87
R0628:Rtel1	UTSW	2	180,993,674 (GRCm39)	missense	probably benign	0.03
R0940:Rtel1	UTSW	2	180,964,596 (GRCm39)	missense	probably benign	0.36
R1165:Rtel1	UTSW	2	180,976,732 (GRCm39)	missense	probably benign	0.26
R1213:Rtel1	UTSW	2	180,993,128 (GRCm39)	missense	probably benign	0.01
R1291:Rtel1	UTSW	2	180,992,836 (GRCm39)	missense	probably damaging	1.00
R1353:Rtel1	UTSW	2	180,991,024 (GRCm39)	missense	probably benign
R1398:Rtel1	UTSW	2	180,977,658 (GRCm39)	splice site	probably null
R1796:Rtel1	UTSW	2	180,993,896 (GRCm39)	missense	probably benign	0.01
R1973:Rtel1	UTSW	2	180,993,419 (GRCm39)	missense	probably benign	0.04
R2033:Rtel1	UTSW	2	180,993,656 (GRCm39)	nonsense	probably null
R2265:Rtel1	UTSW	2	180,996,161 (GRCm39)	missense	probably damaging	1.00
R2269:Rtel1	UTSW	2	180,977,796 (GRCm39)	missense	probably benign	0.00
R2416:Rtel1	UTSW	2	180,982,324 (GRCm39)	missense	possibly damaging	0.66
R2865:Rtel1	UTSW	2	180,991,765 (GRCm39)	missense	probably benign	0.36
R3508:Rtel1	UTSW	2	180,964,202 (GRCm39)	missense	probably benign	0.32
R4242:Rtel1	UTSW	2	180,991,727 (GRCm39)	missense	probably damaging	1.00
R4377:Rtel1	UTSW	2	180,997,589 (GRCm39)	missense	probably damaging	1.00
R4702:Rtel1	UTSW	2	180,993,962 (GRCm39)	missense	probably benign	0.30
R4706:Rtel1	UTSW	2	180,965,539 (GRCm39)	critical splice donor site	probably null
R4817:Rtel1	UTSW	2	180,997,728 (GRCm39)	missense	possibly damaging	0.82
R5020:Rtel1	UTSW	2	180,964,307 (GRCm39)	splice site	probably null
R5069:Rtel1	UTSW	2	180,997,285 (GRCm39)	missense	probably benign	0.03
R5222:Rtel1	UTSW	2	180,988,776 (GRCm39)	intron	probably benign
R5268:Rtel1	UTSW	2	180,982,354 (GRCm39)	missense	probably benign	0.03
R5291:Rtel1	UTSW	2	180,993,888 (GRCm39)	missense	possibly damaging	0.47
R5588:Rtel1	UTSW	2	180,993,893 (GRCm39)	missense	probably benign
R5682:Rtel1	UTSW	2	180,991,765 (GRCm39)	missense	probably benign	0.19
R5796:Rtel1	UTSW	2	180,982,299 (GRCm39)	missense	probably benign	0.26
R5931:Rtel1	UTSW	2	180,972,608 (GRCm39)	nonsense	probably null
R6249:Rtel1	UTSW	2	180,993,475 (GRCm39)	missense	probably damaging	1.00
R6465:Rtel1	UTSW	2	180,977,733 (GRCm39)	missense	possibly damaging	0.68
R6616:Rtel1	UTSW	2	180,994,579 (GRCm39)	missense	possibly damaging	0.68
R6800:Rtel1	UTSW	2	180,964,256 (GRCm39)	missense	probably benign	0.31
R6835:Rtel1	UTSW	2	180,997,746 (GRCm39)	missense	probably benign	0.04
R6917:Rtel1	UTSW	2	180,980,070 (GRCm39)	makesense	probably null
R7264:Rtel1	UTSW	2	180,993,654 (GRCm39)	missense	not run
R7381:Rtel1	UTSW	2	180,972,608 (GRCm39)	nonsense	probably null
R7523:Rtel1	UTSW	2	180,964,108 (GRCm39)	missense	probably damaging	1.00
R7587:Rtel1	UTSW	2	180,964,108 (GRCm39)	missense	probably damaging	1.00
R7681:Rtel1	UTSW	2	180,964,187 (GRCm39)	missense	probably damaging	0.99
R7871:Rtel1	UTSW	2	180,962,822 (GRCm39)	missense	probably damaging	1.00
R7912:Rtel1	UTSW	2	180,997,869 (GRCm39)	missense	possibly damaging	0.56
R8007:Rtel1	UTSW	2	180,976,767 (GRCm39)	missense	probably damaging	1.00
R8062:Rtel1	UTSW	2	180,982,360 (GRCm39)	missense	probably benign	0.17
R8088:Rtel1	UTSW	2	180,964,138 (GRCm39)	missense	probably damaging	1.00
R8435:Rtel1	UTSW	2	180,995,897 (GRCm39)	missense	possibly damaging	0.93
R8873:Rtel1	UTSW	2	180,997,816 (GRCm39)	frame shift	probably null
R9441:Rtel1	UTSW	2	180,988,860 (GRCm39)	missense	possibly damaging	0.89
R9704:Rtel1	UTSW	2	180,993,905 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTAATCCTGGACACAGTGCTCC -3'
(R):5'- AGAGCGTGGAGTTCTTGGAC -3'

Sequencing Primer
(F):5'- ACACAGTGCTCCCTGGTG -3'
(R):5'- CTCTTCTCCATGTAATACCAAGGAGG -3'

Posted On

2014-10-01