Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01625:Rlf'

92740

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 #

IGL01625

Quality Score

Status

Chromosome

Chromosomal Location

121003080-121072318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121045457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 143 (S143R)

Ref Sequence

ENSEMBL: ENSMUSP00000050825 (fasta)

Gene Model

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

AlphaFold

A2A7F4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056635
AA Change: S143R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: S143R

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

noncoding transcript
Transcript: ENSMUST00000142647

SMART Domains

Protein: ENSMUSP00000116831
Gene: ENSMUSG00000049878

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000168615
AA Change: S33R

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: S33R

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,979,957 (GRCm39)	H37Q	possibly damaging	Het
Akr1c19	T	A	13: 4,283,816 (GRCm39)	I16N	probably damaging	Het
Arpc1b	T	C	5: 145,058,555 (GRCm39)		probably null	Het
Bzw1	A	G	1: 58,440,599 (GRCm39)	T191A	probably benign	Het
Cacna1h	G	A	17: 25,604,686 (GRCm39)	T1209I	possibly damaging	Het
Cacna1h	T	C	17: 25,602,459 (GRCm39)	D1523G	probably damaging	Het
Cdc20b	T	C	13: 113,196,319 (GRCm39)	L148P	possibly damaging	Het
Cubn	A	G	2: 13,311,085 (GRCm39)	F3147L	possibly damaging	Het
Dagla	A	G	19: 10,228,566 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,935,471 (GRCm39)	N1983D	probably damaging	Het
Fbxw10	G	A	11: 62,750,853 (GRCm39)	D479N	probably damaging	Het
Fer	A	T	17: 64,344,621 (GRCm39)	Q630L	probably damaging	Het
Gbp5	A	G	3: 142,208,789 (GRCm39)	N111D	probably damaging	Het
Gm8127	T	G	14: 43,148,520 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,428,409 (GRCm39)	N814K	probably damaging	Het
Iba57	G	A	11: 59,049,775 (GRCm39)	R191W	probably damaging	Het
Itgae	C	A	11: 73,010,263 (GRCm39)	F584L	probably benign	Het
Kdm5b	A	G	1: 134,545,706 (GRCm39)	K956E	possibly damaging	Het
Muc4	C	T	16: 32,575,918 (GRCm39)		probably benign	Het
Mybpc2	T	C	7: 44,166,337 (GRCm39)	K218E	possibly damaging	Het
Pcdh10	T	C	3: 45,333,832 (GRCm39)	S49P	probably damaging	Het
Prss3b	A	C	6: 41,009,882 (GRCm39)	S151A	probably benign	Het
Rai14	T	C	15: 10,572,460 (GRCm39)	D889G	probably benign	Het
Rbpjl	A	G	2: 164,249,705 (GRCm39)	K102R	possibly damaging	Het
Retreg2	A	G	1: 75,121,359 (GRCm39)		probably benign	Het
Rfc4	A	T	16: 22,934,573 (GRCm39)	L149Q	probably damaging	Het
Rft1	T	A	14: 30,398,853 (GRCm39)	D274E	possibly damaging	Het
Rptn	T	A	3: 93,305,201 (GRCm39)	S845T	probably benign	Het
Slamf8	C	A	1: 172,410,049 (GRCm39)	D267Y	probably damaging	Het
Smoc2	C	T	17: 14,545,876 (GRCm39)	S55L	probably damaging	Het
Sptan1	C	T	2: 29,916,126 (GRCm39)	A2038V	probably damaging	Het
Stx17	C	A	4: 48,181,526 (GRCm39)	P210T	probably damaging	Het
Tbc1d5	A	G	17: 51,224,601 (GRCm39)	Y317H	probably benign	Het
Tenm4	C	A	7: 96,534,565 (GRCm39)	T1737N	probably damaging	Het
Tesk2	T	C	4: 116,628,998 (GRCm39)	F116L	possibly damaging	Het
Tln2	T	C	9: 67,277,905 (GRCm39)	S370G	probably damaging	Het
Tm6sf2	G	T	8: 70,528,733 (GRCm39)	G162C	probably null	Het
Togaram2	A	C	17: 72,021,693 (GRCm39)	E718D	probably benign	Het
Ttn	A	C	2: 76,578,327 (GRCm39)	F15862V	probably damaging	Het
Uba6	T	A	5: 86,268,388 (GRCm39)	R916*	probably null	Het
Umodl1	A	G	17: 31,215,229 (GRCm39)	M1018V	probably benign	Het
Wdr26	G	A	1: 181,019,381 (GRCm39)	T332I	possibly damaging	Het
Xdh	A	T	17: 74,223,781 (GRCm39)		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
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
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

2013-12-09