Mutagenetix > Incidental Mutation

Incidental Mutation 'R5150:Rlf'

395296

Institutional Source

Beutler Lab

Gene Symbol

Rlf

Ensembl Gene

ENSMUSG00000049878

Gene Name

rearranged L-myc fusion sequence

Synonyms

9230110M18Rik, MommeD8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5150 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121003080-121072318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121005369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1204 (F1204I)

Ref Sequence

ENSEMBL: ENSMUSP00000127068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056635] [ENSMUST00000168615]

AlphaFold

A2A7F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000056635
AA Change: F1314I

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

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: F1314I

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
low complexity region	129	149	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
ZnF_C2H2	554	575	1.27e2	SMART
ZnF_C2H2	581	603	1.08e-1	SMART
ZnF_C2H2	667	692	5.42e-2	SMART
ZnF_C2H2	710	732	8.09e-1	SMART
ZnF_C2H2	738	762	3.99e0	SMART
ZnF_C2H2	767	791	3.16e-3	SMART
ZnF_C2H2	797	821	1.18e-2	SMART
low complexity region	885	909	N/A	INTRINSIC
ZnF_C2H2	949	974	2.57e-3	SMART
low complexity region	1055	1066	N/A	INTRINSIC
ZnF_C2H2	1122	1147	5.9e-3	SMART
ZnF_C2H2	1167	1190	4.17e-3	SMART
low complexity region	1259	1285	N/A	INTRINSIC
ZnF_C2H2	1303	1328	5.06e-2	SMART
ZnF_C2H2	1355	1380	6.57e-1	SMART
ZnF_C2H2	1400	1425	3.83e-2	SMART
ZnF_C2H2	1437	1462	8.81e-2	SMART
low complexity region	1488	1514	N/A	INTRINSIC
low complexity region	1521	1533	N/A	INTRINSIC
ZnF_C2H2	1556	1581	4.81e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168615
AA Change: F1204I

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

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: F1204I

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	444	465	1.27e2	SMART
ZnF_C2H2	471	493	1.08e-1	SMART
ZnF_C2H2	557	582	5.42e-2	SMART
ZnF_C2H2	600	622	8.09e-1	SMART
ZnF_C2H2	628	652	3.99e0	SMART
ZnF_C2H2	657	681	3.16e-3	SMART
ZnF_C2H2	687	711	1.18e-2	SMART
low complexity region	775	799	N/A	INTRINSIC
ZnF_C2H2	839	864	2.57e-3	SMART
low complexity region	945	956	N/A	INTRINSIC
ZnF_C2H2	1012	1037	5.9e-3	SMART
ZnF_C2H2	1057	1080	4.17e-3	SMART
low complexity region	1149	1175	N/A	INTRINSIC
ZnF_C2H2	1193	1218	5.06e-2	SMART
ZnF_C2H2	1245	1270	6.57e-1	SMART
ZnF_C2H2	1290	1315	3.83e-2	SMART
ZnF_C2H2	1327	1352	8.81e-2	SMART
low complexity region	1378	1404	N/A	INTRINSIC
low complexity region	1411	1423	N/A	INTRINSIC
ZnF_C2H2	1446	1471	4.81e0	SMART

Meta Mutation Damage Score

0.8120

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

93% (57/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic ENU-induced allele exhibit postnatal lethality. Only a few mice survive to weaning age exhibiting a decreased body size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	T	C	2: 130,895,117 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,988,268 (GRCm39)	V3184A	possibly damaging	Het
Aoc1	A	G	6: 48,883,084 (GRCm39)	N320S	possibly damaging	Het
Bin2	T	C	15: 100,543,244 (GRCm39)	E313G	probably damaging	Het
Brd10	C	A	19: 29,782,950 (GRCm39)	A109S	probably damaging	Het
C9orf72	A	G	4: 35,193,270 (GRCm39)	S228P	possibly damaging	Het
Ccdc47	T	C	11: 106,096,265 (GRCm39)	D253G	possibly damaging	Het
Ccdc73	A	G	2: 104,822,384 (GRCm39)	T778A	probably benign	Het
Cops3	C	A	11: 59,710,839 (GRCm39)	D377Y	probably damaging	Het
Cyp4a14	A	C	4: 115,350,806 (GRCm39)	V156G	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Disp1	C	A	1: 182,871,063 (GRCm39)	M452I	probably damaging	Het
Fam210b	T	C	2: 172,193,468 (GRCm39)	Y94H	probably damaging	Het
Fbxo45	C	A	16: 32,065,524 (GRCm39)		probably benign	Het
Flrt2	T	A	12: 95,745,977 (GRCm39)	M105K	possibly damaging	Het
Gm26558	G	A	2: 70,491,656 (GRCm39)		probably benign	Het
Gpr83	T	G	9: 14,772,101 (GRCm39)	L91R	probably damaging	Het
Greb1l	TTTAATAACTT	TTT	18: 10,555,950 (GRCm39)		probably null	Het
Hmces	T	A	6: 87,910,217 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Ksr2	A	C	5: 117,693,074 (GRCm39)	E174A	probably damaging	Het
Lats1	A	G	10: 7,588,415 (GRCm39)	T1011A	probably benign	Het
Lrrc46	T	C	11: 96,926,957 (GRCm39)	D120G	probably damaging	Het
Ncstn	C	A	1: 171,895,151 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,059,130 (GRCm39)	T6118A	probably benign	Het
Nipsnap2	A	C	5: 129,834,175 (GRCm39)	M272L	probably benign	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or13c7c	A	G	4: 43,836,301 (GRCm39)	L63P	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or4f15	T	A	2: 111,814,366 (GRCm39)	T18S	probably benign	Het
Or4f61	T	A	2: 111,922,880 (GRCm39)	L55F	possibly damaging	Het
Or4g17	T	A	2: 111,209,598 (GRCm39)	D84E	probably damaging	Het
Or5b118	A	T	19: 13,448,794 (GRCm39)	Q153H	probably benign	Het
Pold1	A	G	7: 44,185,256 (GRCm39)	V750A	possibly damaging	Het
Prdm11	C	T	2: 92,805,817 (GRCm39)	E378K	probably damaging	Het
Ptpn9	A	G	9: 56,943,954 (GRCm39)	D276G	probably benign	Het
Robo1	C	A	16: 72,769,192 (GRCm39)	T537K	possibly damaging	Het
Sec31b	T	A	19: 44,508,970 (GRCm39)	M670L	probably benign	Het
Sephs1	T	A	2: 4,904,321 (GRCm39)	V233E	possibly damaging	Het
Serpinb2	T	C	1: 107,450,939 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,550,008 (GRCm39)	Q670R	possibly damaging	Het
Slc8a2	A	C	7: 15,879,101 (GRCm39)	D529A	possibly damaging	Het
Sva	A	G	6: 42,019,093 (GRCm39)	N88D	probably benign	Het
Tcf15	G	T	2: 151,986,051 (GRCm39)	R169L	probably damaging	Het
Tfr2	A	G	5: 137,572,752 (GRCm39)	T188A	probably benign	Het
Tshz1	T	A	18: 84,031,340 (GRCm39)	K1023*	probably null	Het
Ttc28	A	G	5: 111,373,555 (GRCm39)	N966S	probably damaging	Het
Unc5c	T	A	3: 141,463,554 (GRCm39)	I225N	probably damaging	Het
Ush2a	T	C	1: 188,184,067 (GRCm39)	L1457S	possibly damaging	Het
Zbtb34	G	T	2: 33,301,133 (GRCm39)	H469Q	probably damaging	Het
Zfp692	T	C	11: 58,198,413 (GRCm39)	M1T	probably null	Het

Other mutations in Rlf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Rlf	APN	4	121,027,883 (GRCm39)	missense	possibly damaging	0.89
IGL00558:Rlf	APN	4	121,008,170 (GRCm39)	missense	probably damaging	1.00
IGL00990:Rlf	APN	4	121,005,536 (GRCm39)	missense	possibly damaging	0.87
IGL01625:Rlf	APN	4	121,045,457 (GRCm39)	missense	possibly damaging	0.68
IGL01921:Rlf	APN	4	121,003,943 (GRCm39)	missense	probably damaging	1.00
IGL01986:Rlf	APN	4	121,005,303 (GRCm39)	missense	probably damaging	1.00
IGL02232:Rlf	APN	4	121,039,811 (GRCm39)	missense	probably benign	0.21
IGL02586:Rlf	APN	4	121,007,261 (GRCm39)	missense	probably damaging	1.00
IGL03177:Rlf	APN	4	121,005,276 (GRCm39)	nonsense	probably null
IGL03233:Rlf	APN	4	121,039,797 (GRCm39)	splice site	probably benign
IGL03293:Rlf	APN	4	121,005,527 (GRCm39)	missense	probably benign	0.18
Brady	UTSW	4	121,005,750 (GRCm39)	nonsense	probably null
bunch	UTSW	4	121,012,172 (GRCm39)	missense	probably damaging	1.00
Rosary	UTSW	4	121,005,807 (GRCm39)	missense	probably damaging	0.99
transsubstantiation	UTSW	4	121,005,488 (GRCm39)	missense	probably benign	0.10
wafer	UTSW	4	121,007,729 (GRCm39)	missense	probably benign	0.00
Wine	UTSW	4	121,005,369 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Rlf	UTSW	4	121,007,510 (GRCm39)	missense	probably damaging	0.98
R0019:Rlf	UTSW	4	121,003,769 (GRCm39)	missense	possibly damaging	0.46
R0019:Rlf	UTSW	4	121,003,769 (GRCm39)	missense	possibly damaging	0.46
R0039:Rlf	UTSW	4	121,004,039 (GRCm39)	missense	possibly damaging	0.90
R0041:Rlf	UTSW	4	121,007,126 (GRCm39)	missense	probably damaging	1.00
R0041:Rlf	UTSW	4	121,007,126 (GRCm39)	missense	probably damaging	1.00
R0590:Rlf	UTSW	4	121,028,030 (GRCm39)	splice site	probably benign
R1562:Rlf	UTSW	4	121,007,588 (GRCm39)	missense	possibly damaging	0.47
R1585:Rlf	UTSW	4	121,005,488 (GRCm39)	missense	probably benign	0.10
R1627:Rlf	UTSW	4	121,007,197 (GRCm39)	missense	probably benign	0.34
R1709:Rlf	UTSW	4	121,007,020 (GRCm39)	missense	probably benign	0.00
R1968:Rlf	UTSW	4	121,005,617 (GRCm39)	missense	probably damaging	1.00
R1982:Rlf	UTSW	4	121,007,309 (GRCm39)	missense	probably damaging	1.00
R3120:Rlf	UTSW	4	121,006,680 (GRCm39)	missense	probably benign	0.01
R3155:Rlf	UTSW	4	121,006,529 (GRCm39)	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121,006,044 (GRCm39)	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121,006,044 (GRCm39)	missense	probably damaging	1.00
R3429:Rlf	UTSW	4	121,007,729 (GRCm39)	missense	probably benign	0.00
R3430:Rlf	UTSW	4	121,007,729 (GRCm39)	missense	probably benign	0.00
R3700:Rlf	UTSW	4	121,008,060 (GRCm39)	missense	possibly damaging	0.77
R3732:Rlf	UTSW	4	121,005,521 (GRCm39)	missense	probably benign
R3909:Rlf	UTSW	4	121,006,229 (GRCm39)	missense	probably benign	0.00
R4033:Rlf	UTSW	4	121,004,540 (GRCm39)	missense	probably damaging	1.00
R4350:Rlf	UTSW	4	121,006,293 (GRCm39)	missense	probably benign	0.16
R4654:Rlf	UTSW	4	121,007,798 (GRCm39)	missense	probably benign	0.28
R4976:Rlf	UTSW	4	121,004,652 (GRCm39)	missense	probably damaging	0.98
R5060:Rlf	UTSW	4	121,004,063 (GRCm39)	missense	probably benign	0.00
R5105:Rlf	UTSW	4	121,007,564 (GRCm39)	missense	probably damaging	1.00
R5119:Rlf	UTSW	4	121,004,652 (GRCm39)	missense	probably damaging	0.98
R5198:Rlf	UTSW	4	121,005,750 (GRCm39)	nonsense	probably null
R5214:Rlf	UTSW	4	121,007,897 (GRCm39)	missense	probably damaging	1.00
R6084:Rlf	UTSW	4	121,006,412 (GRCm39)	missense	possibly damaging	0.95
R6131:Rlf	UTSW	4	121,012,172 (GRCm39)	missense	probably damaging	1.00
R6188:Rlf	UTSW	4	121,027,963 (GRCm39)	missense	probably damaging	1.00
R6313:Rlf	UTSW	4	121,005,807 (GRCm39)	missense	probably damaging	0.99
R6332:Rlf	UTSW	4	121,006,019 (GRCm39)	missense	possibly damaging	0.75
R6341:Rlf	UTSW	4	121,006,557 (GRCm39)	nonsense	probably null
R6413:Rlf	UTSW	4	121,004,522 (GRCm39)	missense	probably damaging	1.00
R6683:Rlf	UTSW	4	121,005,123 (GRCm39)	missense	probably damaging	1.00
R7066:Rlf	UTSW	4	121,005,984 (GRCm39)	missense	probably benign
R7413:Rlf	UTSW	4	121,007,297 (GRCm39)	missense	probably damaging	1.00
R7640:Rlf	UTSW	4	121,003,998 (GRCm39)	missense	possibly damaging	0.96
R7641:Rlf	UTSW	4	121,016,393 (GRCm39)	missense	probably damaging	1.00
R7855:Rlf	UTSW	4	121,039,888 (GRCm39)	missense	possibly damaging	0.93
R8127:Rlf	UTSW	4	121,005,093 (GRCm39)	missense	possibly damaging	0.89
R8146:Rlf	UTSW	4	121,004,429 (GRCm39)	missense	probably benign	0.16
R8182:Rlf	UTSW	4	121,008,102 (GRCm39)	missense	possibly damaging	0.94
R8350:Rlf	UTSW	4	121,027,954 (GRCm39)	missense	probably damaging	0.98
R8375:Rlf	UTSW	4	121,005,532 (GRCm39)	missense	probably damaging	0.96
R8754:Rlf	UTSW	4	121,004,010 (GRCm39)	missense	possibly damaging	0.90
R8837:Rlf	UTSW	4	121,045,432 (GRCm39)	missense	probably benign	0.06
R8901:Rlf	UTSW	4	121,004,010 (GRCm39)	missense	possibly damaging	0.90
R9054:Rlf	UTSW	4	121,007,784 (GRCm39)	missense	possibly damaging	0.47
R9090:Rlf	UTSW	4	121,004,751 (GRCm39)	missense	probably benign
R9144:Rlf	UTSW	4	121,003,900 (GRCm39)	missense	probably benign	0.16
R9265:Rlf	UTSW	4	121,007,487 (GRCm39)	missense	possibly damaging	0.63
R9271:Rlf	UTSW	4	121,004,751 (GRCm39)	missense	probably benign
R9549:Rlf	UTSW	4	121,005,320 (GRCm39)	missense	probably damaging	1.00
R9550:Rlf	UTSW	4	121,003,620 (GRCm39)	missense	probably damaging	1.00
R9570:Rlf	UTSW	4	121,007,087 (GRCm39)	missense	possibly damaging	0.90
R9627:Rlf	UTSW	4	121,007,002 (GRCm39)	nonsense	probably null
R9652:Rlf	UTSW	4	121,007,865 (GRCm39)	missense	probably damaging	1.00
Z1176:Rlf	UTSW	4	121,007,625 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACTACAGTGCTTAGCCAGG -3'
(R):5'- GCAGCTCAGAAACAGACTTG -3'

Sequencing Primer
(F):5'- AGTGCTTAGCCAGGGCCTTG -3'
(R):5'- GACTTGGAGTCCTCTTGTGAG -3'

Posted On

2016-06-21