Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Rlf'

482367

Institutional Source

Beutler Lab

Gene Symbol

Rlf

Ensembl Gene

ENSMUSG00000049878

Gene Name

rearranged L-myc fusion sequence

Synonyms

MommeD8, 9230110M18Rik

MMRRC Submission

044243-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121145373-121215084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121149215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 856 (M856K)

Ref Sequence

ENSEMBL: ENSMUSP00000127068 (fasta)

Gene Model

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

AlphaFold

A2A7F4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056635
AA Change: M966K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: M966K

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

possibly damaging
Transcript: ENSMUST00000168615
AA Change: M856K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: M856K

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	Het

Other mutations in Rlf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Rlf	APN	4	121170686	missense	possibly damaging	0.89
IGL00558:Rlf	APN	4	121150973	missense	probably damaging	1.00
IGL00990:Rlf	APN	4	121148339	missense	possibly damaging	0.87
IGL01625:Rlf	APN	4	121188260	missense	possibly damaging	0.68
IGL01921:Rlf	APN	4	121146746	missense	probably damaging	1.00
IGL01986:Rlf	APN	4	121148106	missense	probably damaging	1.00
IGL02232:Rlf	APN	4	121182614	missense	probably benign	0.21
IGL02586:Rlf	APN	4	121150064	missense	probably damaging	1.00
IGL03177:Rlf	APN	4	121148079	nonsense	probably null
IGL03233:Rlf	APN	4	121182600	splice site	probably benign
IGL03293:Rlf	APN	4	121148330	missense	probably benign	0.18
Brady	UTSW	4	121148553	nonsense	probably null
bunch	UTSW	4	121154975	missense	probably damaging	1.00
Rosary	UTSW	4	121148610	missense	probably damaging	0.99
transsubstantiation	UTSW	4	121148291	missense	probably benign	0.10
wafer	UTSW	4	121150532	missense	probably benign	0.00
Wine	UTSW	4	121148172	missense	probably damaging	1.00
PIT4651001:Rlf	UTSW	4	121150313	missense	probably damaging	0.98
R0019:Rlf	UTSW	4	121146572	missense	possibly damaging	0.46
R0019:Rlf	UTSW	4	121146572	missense	possibly damaging	0.46
R0039:Rlf	UTSW	4	121146842	missense	possibly damaging	0.90
R0041:Rlf	UTSW	4	121149929	missense	probably damaging	1.00
R0041:Rlf	UTSW	4	121149929	missense	probably damaging	1.00
R0590:Rlf	UTSW	4	121170833	splice site	probably benign
R1562:Rlf	UTSW	4	121150391	missense	possibly damaging	0.47
R1585:Rlf	UTSW	4	121148291	missense	probably benign	0.10
R1627:Rlf	UTSW	4	121150000	missense	probably benign	0.34
R1709:Rlf	UTSW	4	121149823	missense	probably benign	0.00
R1968:Rlf	UTSW	4	121148420	missense	probably damaging	1.00
R1982:Rlf	UTSW	4	121150112	missense	probably damaging	1.00
R3120:Rlf	UTSW	4	121149483	missense	probably benign	0.01
R3155:Rlf	UTSW	4	121149332	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121148847	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121148847	missense	probably damaging	1.00
R3429:Rlf	UTSW	4	121150532	missense	probably benign	0.00
R3430:Rlf	UTSW	4	121150532	missense	probably benign	0.00
R3700:Rlf	UTSW	4	121150863	missense	possibly damaging	0.77
R3732:Rlf	UTSW	4	121148324	missense	probably benign
R3909:Rlf	UTSW	4	121149032	missense	probably benign	0.00
R4033:Rlf	UTSW	4	121147343	missense	probably damaging	1.00
R4350:Rlf	UTSW	4	121149096	missense	probably benign	0.16
R4654:Rlf	UTSW	4	121150601	missense	probably benign	0.28
R4976:Rlf	UTSW	4	121147455	missense	probably damaging	0.98
R5060:Rlf	UTSW	4	121146866	missense	probably benign	0.00
R5105:Rlf	UTSW	4	121150367	missense	probably damaging	1.00
R5119:Rlf	UTSW	4	121147455	missense	probably damaging	0.98
R5150:Rlf	UTSW	4	121148172	missense	probably damaging	1.00
R5198:Rlf	UTSW	4	121148553	nonsense	probably null
R5214:Rlf	UTSW	4	121150700	missense	probably damaging	1.00
R6131:Rlf	UTSW	4	121154975	missense	probably damaging	1.00
R6188:Rlf	UTSW	4	121170766	missense	probably damaging	1.00
R6313:Rlf	UTSW	4	121148610	missense	probably damaging	0.99
R6332:Rlf	UTSW	4	121148822	missense	possibly damaging	0.75
R6341:Rlf	UTSW	4	121149360	nonsense	probably null
R6413:Rlf	UTSW	4	121147325	missense	probably damaging	1.00
R6683:Rlf	UTSW	4	121147926	missense	probably damaging	1.00
R7066:Rlf	UTSW	4	121148787	missense	probably benign
R7413:Rlf	UTSW	4	121150100	missense	probably damaging	1.00
R7640:Rlf	UTSW	4	121146801	missense	possibly damaging	0.96
R7641:Rlf	UTSW	4	121159196	missense	probably damaging	1.00
R7855:Rlf	UTSW	4	121182691	missense	possibly damaging	0.93
R8127:Rlf	UTSW	4	121147896	missense	possibly damaging	0.89
R8146:Rlf	UTSW	4	121147232	missense	probably benign	0.16
R8182:Rlf	UTSW	4	121150905	missense	possibly damaging	0.94
R8350:Rlf	UTSW	4	121170757	missense	probably damaging	0.98
R8375:Rlf	UTSW	4	121148335	missense	probably damaging	0.96
R8754:Rlf	UTSW	4	121146813	missense	possibly damaging	0.90
R8837:Rlf	UTSW	4	121188235	missense	probably benign	0.06
R8901:Rlf	UTSW	4	121146813	missense	possibly damaging	0.90
R9054:Rlf	UTSW	4	121150587	missense	possibly damaging	0.47
R9090:Rlf	UTSW	4	121147554	missense	probably benign
R9144:Rlf	UTSW	4	121146703	missense	probably benign	0.16
R9265:Rlf	UTSW	4	121150290	missense	possibly damaging	0.63
R9271:Rlf	UTSW	4	121147554	missense	probably benign
R9549:Rlf	UTSW	4	121148123	missense	probably damaging	1.00
R9550:Rlf	UTSW	4	121146423	missense	probably damaging	1.00
R9570:Rlf	UTSW	4	121149890	missense	possibly damaging	0.90
R9627:Rlf	UTSW	4	121149805	nonsense	probably null
R9652:Rlf	UTSW	4	121150668	missense	probably damaging	1.00
Z1176:Rlf	UTSW	4	121150428	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGATACTGTGATCTGGACC -3'
(R):5'- CAGTTAAGTCACAGCTCTTCCAC -3'

Posted On

2017-07-14