Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Rtel1'

32928

Institutional Source

Beutler Lab

Gene Symbol

Rtel1

Ensembl Gene

ENSMUSG00000038685

Gene Name

regulator of telomere elongation helicase 1

Synonyms

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0047 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

180961532-180998409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 180965198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 146 (I146M)

Ref Sequence

ENSEMBL: ENSMUSP00000104443 (fasta)

Gene Model

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

AlphaFold

Q0VGM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048608
AA Change: I146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043563
Gene: ENSMUSG00000038685
AA Change: I146M

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: I146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053120
Gene: ENSMUSG00000038685
AA Change: I146M

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: I146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096571
Gene: ENSMUSG00000038685
AA Change: I146M

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: I146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104442
Gene: ENSMUSG00000038685
AA Change: I146M

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: I146M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104443
Gene: ENSMUSG00000038685
AA Change: I146M

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 damaging
Transcript: ENSMUST00000153112
AA Change: I146M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118810
Gene: ENSMUSG00000038685
AA Change: I146M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,460,168 (GRCm39)	I395V	probably benign	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,591,379 (GRCm39)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,295,917 (GRCm39)	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,242,555 (GRCm39)		probably null	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,109,733 (GRCm39)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Camk2g	G	A	14: 20,821,136 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cdkl4	T	G	17: 80,858,274 (GRCm39)	N115T	probably benign	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,022,573 (GRCm39)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Crh	T	C	3: 19,748,201 (GRCm39)	E147G	probably damaging	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Ffar4	A	G	19: 38,102,452 (GRCm39)		probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Insr	A	G	8: 3,252,947 (GRCm39)	V404A	probably damaging	Het
Irak2	G	T	6: 113,649,914 (GRCm39)		probably benign	Het
Irak2	G	A	6: 113,655,699 (GRCm39)	V367I	probably benign	Het
Kat7	A	C	11: 95,191,034 (GRCm39)	N119K	probably benign	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Klf17	A	G	4: 117,618,229 (GRCm39)	Y43H	probably benign	Het
Kng2	T	A	16: 22,806,313 (GRCm39)	T629S	possibly damaging	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Lrp12	T	C	15: 39,741,635 (GRCm39)	E360G	probably damaging	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,300,814 (GRCm39)	L72*	probably null	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Or5h18	T	A	16: 58,847,587 (GRCm39)	M228L	probably benign	Het
Or5p80	A	G	7: 108,229,759 (GRCm39)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,454,321 (GRCm39)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,661,920 (GRCm39)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,206,543 (GRCm39)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tbx3	A	T	5: 119,818,511 (GRCm39)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trim26	T	C	17: 37,168,756 (GRCm39)		probably benign	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,460,858 (GRCm39)	V728A	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,146,795 (GRCm39)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het
Zan	A	G	5: 137,401,918 (GRCm39)	M4058T	unknown	Het
Zfp236	C	T	18: 82,698,817 (GRCm39)	C88Y	probably damaging	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
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
R2144:Rtel1	UTSW	2	180,965,499 (GRCm39)	missense	probably damaging	0.97
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'- TCATGCCTGTGGTTAAGGTCAGC -3'
(R):5'- AGGGAGCACTGTGTCCAGGATTAG -3'

Sequencing Primer
(F):5'- ATATCTCGGTAGGGCTCCCATATAG -3'
(R):5'- GATTAGCATCCTCCGGGAAC -3'

Posted On

2013-05-09