Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02586:Rlf'

299541

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02586

Quality Score

Status

Chromosome

Chromosomal Location

121003080-121072318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121007261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 573 (Y573C)

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: Y683C

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

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: Y683C

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: Y573C

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

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: Y573C

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

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,983 (GRCm39)	I1949V	possibly damaging	Het
Anapc2	T	A	2: 25,175,108 (GRCm39)	M742K	probably benign	Het
Arhgef12	T	A	9: 42,917,200 (GRCm39)	K380*	probably null	Het
Armc1	G	T	3: 19,188,192 (GRCm39)		probably benign	Het
Bltp1	G	A	3: 37,098,757 (GRCm39)	W4626*	probably null	Het
Diaph3	A	T	14: 87,223,512 (GRCm39)	L323*	probably null	Het
Fbxo11	C	T	17: 88,318,711 (GRCm39)		probably benign	Het
Flywch1	C	T	17: 23,974,676 (GRCm39)	A655T	probably benign	Het
Frmpd1	A	G	4: 45,285,160 (GRCm39)	D1327G	probably damaging	Het
Ggact	G	A	14: 123,128,942 (GRCm39)	T91I	possibly damaging	Het
Gm10250	T	A	15: 5,150,412 (GRCm39)		probably benign	Het
Gsdmc4	T	C	15: 63,765,641 (GRCm39)	S303G	probably damaging	Het
Helt	T	C	8: 46,746,276 (GRCm39)	E15G	probably damaging	Het
Kcnf1	T	A	12: 17,226,144 (GRCm39)	S26C	probably benign	Het
Lilra6	T	C	7: 3,911,819 (GRCm39)	T280A	probably benign	Het
Lipo3	A	T	19: 33,559,539 (GRCm39)	D110E	possibly damaging	Het
Mepe	C	A	5: 104,485,316 (GRCm39)	T152N	probably benign	Het
Nr2f1	C	A	13: 78,343,275 (GRCm39)		probably benign	Het
Or5ak24	T	C	2: 85,260,810 (GRCm39)	D121G	possibly damaging	Het
Or6c214	A	G	10: 129,590,524 (GRCm39)	I265T	possibly damaging	Het
Peg3	T	C	7: 6,713,068 (GRCm39)	D718G	probably benign	Het
Phf2	A	T	13: 48,967,334 (GRCm39)		probably benign	Het
Pigc	A	T	1: 161,798,503 (GRCm39)	I162F	probably benign	Het
Raf1	A	G	6: 115,597,267 (GRCm39)	L11P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rnf149	T	G	1: 39,604,296 (GRCm39)	Q189P	probably benign	Het
Slc11a1	T	C	1: 74,424,291 (GRCm39)		probably benign	Het
Slc22a12	C	T	19: 6,590,487 (GRCm39)	M234I	probably benign	Het
Slc28a1	A	T	7: 80,814,167 (GRCm39)	I455F	probably benign	Het
Slc35f5	T	G	1: 125,512,273 (GRCm39)	L358V	probably damaging	Het
Slc47a1	A	T	11: 61,235,147 (GRCm39)	V562D	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ushbp1	T	C	8: 71,841,394 (GRCm39)		probably benign	Het
Vmn1r88	T	A	7: 12,911,735 (GRCm39)	Y30*	probably null	Het
Vmn2r27	A	T	6: 124,201,434 (GRCm39)	Y174*	probably null	Het
Wwox	T	C	8: 115,438,947 (GRCm39)	Y338H	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zup1	A	T	10: 33,811,261 (GRCm39)		probably benign	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
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
R5150:Rlf	UTSW	4	121,005,369 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16