Mutagenetix > Incidental Mutation

Incidental Mutation 'R3909:Rlf'

309297

Institutional Source

Beutler Lab

Gene Symbol

Rlf

Ensembl Gene

ENSMUSG00000049878

Gene Name

rearranged L-myc fusion sequence

Synonyms

MommeD8, 9230110M18Rik

MMRRC Submission

040814-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121145373-121215084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121149032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 917 (T917I)

Ref Sequence

ENSEMBL: ENSMUSP00000127068 (fasta)

Gene Model

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

AlphaFold

A2A7F4

Predicted Effect

probably benign
Transcript: ENSMUST00000056635
AA Change: T1027I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: T1027I

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 benign
Transcript: ENSMUST00000168615
AA Change: T917I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: T917I

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (35/35)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,648,166 (GRCm38)	F501Y	probably damaging	Het
Alk	T	C	17: 71,897,911 (GRCm38)	T1089A	probably benign	Het
Ankrd12	G	T	17: 65,984,005 (GRCm38)	P1478T	probably benign	Het
Arhgap39	A	G	15: 76,751,888 (GRCm38)	V49A	probably benign	Het
Arid4b	T	C	13: 14,132,484 (GRCm38)	L108P	probably damaging	Het
Atrn	T	A	2: 130,994,207 (GRCm38)	C1136S	probably damaging	Het
Cacna1s	T	A	1: 136,084,269 (GRCm38)	M483K	probably damaging	Het
Cacng1	C	A	11: 107,716,292 (GRCm38)	V34L	probably benign	Het
Casp8	T	C	1: 58,844,811 (GRCm38)	S446P	probably damaging	Het
Cngb3	G	A	4: 19,461,679 (GRCm38)	C520Y	probably damaging	Het
Crim1	C	T	17: 78,281,239 (GRCm38)		probably benign	Het
F11	A	G	8: 45,248,638 (GRCm38)	S353P	probably damaging	Het
Fbxl17	G	A	17: 63,499,807 (GRCm38)	P71S	possibly damaging	Het
Fn1	C	T	1: 71,607,913 (GRCm38)	G1482R	probably damaging	Het
Gbp3	C	T	3: 142,566,338 (GRCm38)		probably benign	Het
Golga4	A	G	9: 118,558,736 (GRCm38)	D1642G	possibly damaging	Het
Hspa1a	C	T	17: 34,971,727 (GRCm38)	V67M	probably damaging	Het
Hyls1	T	C	9: 35,561,409 (GRCm38)	D237G	probably damaging	Het
Kmt2e	A	G	5: 23,501,626 (GRCm38)	N1396D	probably benign	Het
Lasp1	G	A	11: 97,799,827 (GRCm38)	V12M	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Muc5b	C	T	7: 141,849,498 (GRCm38)	T732M	unknown	Het
Mxd1	G	T	6: 86,650,960 (GRCm38)	Q199K	probably benign	Het
Olfr1143	T	A	2: 87,802,687 (GRCm38)	F95L	probably benign	Het
Olfr1153	T	A	2: 87,896,949 (GRCm38)		probably null	Het
Olfr1251	T	C	2: 89,667,013 (GRCm38)	E291G	probably damaging	Het
Olfr304	T	A	7: 86,385,974 (GRCm38)	T229S	probably benign	Het
Prps1l1	A	T	12: 34,985,798 (GRCm38)	H304L	possibly damaging	Het
Psmd2	A	G	16: 20,655,642 (GRCm38)	D316G	probably benign	Het
Ryr3	T	C	2: 112,636,608 (GRCm38)	D4704G	probably damaging	Het
Scn1a	T	A	2: 66,273,988 (GRCm38)	I1643F	probably damaging	Het
Vmn2r38	T	C	7: 9,075,554 (GRCm38)	K610E	probably damaging	Het
Zfc3h1	T	C	10: 115,419,901 (GRCm38)	F1486L	probably benign	Het

Other mutations in Rlf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Rlf	APN	4	121,170,686 (GRCm38)	missense	possibly damaging	0.89
IGL00558:Rlf	APN	4	121,150,973 (GRCm38)	missense	probably damaging	1.00
IGL00990:Rlf	APN	4	121,148,339 (GRCm38)	missense	possibly damaging	0.87
IGL01625:Rlf	APN	4	121,188,260 (GRCm38)	missense	possibly damaging	0.68
IGL01921:Rlf	APN	4	121,146,746 (GRCm38)	missense	probably damaging	1.00
IGL01986:Rlf	APN	4	121,148,106 (GRCm38)	missense	probably damaging	1.00
IGL02232:Rlf	APN	4	121,182,614 (GRCm38)	missense	probably benign	0.21
IGL02586:Rlf	APN	4	121,150,064 (GRCm38)	missense	probably damaging	1.00
IGL03177:Rlf	APN	4	121,148,079 (GRCm38)	nonsense	probably null
IGL03233:Rlf	APN	4	121,182,600 (GRCm38)	splice site	probably benign
IGL03293:Rlf	APN	4	121,148,330 (GRCm38)	missense	probably benign	0.18
Brady	UTSW	4	121,148,553 (GRCm38)	nonsense	probably null
bunch	UTSW	4	121,154,975 (GRCm38)	missense	probably damaging	1.00
Rosary	UTSW	4	121,148,610 (GRCm38)	missense	probably damaging	0.99
transsubstantiation	UTSW	4	121,148,291 (GRCm38)	missense	probably benign	0.10
wafer	UTSW	4	121,150,532 (GRCm38)	missense	probably benign	0.00
Wine	UTSW	4	121,148,172 (GRCm38)	missense	probably damaging	1.00
PIT4651001:Rlf	UTSW	4	121,150,313 (GRCm38)	missense	probably damaging	0.98
R0019:Rlf	UTSW	4	121,146,572 (GRCm38)	missense	possibly damaging	0.46
R0019:Rlf	UTSW	4	121,146,572 (GRCm38)	missense	possibly damaging	0.46
R0039:Rlf	UTSW	4	121,146,842 (GRCm38)	missense	possibly damaging	0.90
R0041:Rlf	UTSW	4	121,149,929 (GRCm38)	missense	probably damaging	1.00
R0041:Rlf	UTSW	4	121,149,929 (GRCm38)	missense	probably damaging	1.00
R0590:Rlf	UTSW	4	121,170,833 (GRCm38)	splice site	probably benign
R1562:Rlf	UTSW	4	121,150,391 (GRCm38)	missense	possibly damaging	0.47
R1585:Rlf	UTSW	4	121,148,291 (GRCm38)	missense	probably benign	0.10
R1627:Rlf	UTSW	4	121,150,000 (GRCm38)	missense	probably benign	0.34
R1709:Rlf	UTSW	4	121,149,823 (GRCm38)	missense	probably benign	0.00
R1968:Rlf	UTSW	4	121,148,420 (GRCm38)	missense	probably damaging	1.00
R1982:Rlf	UTSW	4	121,150,112 (GRCm38)	missense	probably damaging	1.00
R3120:Rlf	UTSW	4	121,149,483 (GRCm38)	missense	probably benign	0.01
R3155:Rlf	UTSW	4	121,149,332 (GRCm38)	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121,148,847 (GRCm38)	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121,148,847 (GRCm38)	missense	probably damaging	1.00
R3429:Rlf	UTSW	4	121,150,532 (GRCm38)	missense	probably benign	0.00
R3430:Rlf	UTSW	4	121,150,532 (GRCm38)	missense	probably benign	0.00
R3700:Rlf	UTSW	4	121,150,863 (GRCm38)	missense	possibly damaging	0.77
R3732:Rlf	UTSW	4	121,148,324 (GRCm38)	missense	probably benign
R4033:Rlf	UTSW	4	121,147,343 (GRCm38)	missense	probably damaging	1.00
R4350:Rlf	UTSW	4	121,149,096 (GRCm38)	missense	probably benign	0.16
R4654:Rlf	UTSW	4	121,150,601 (GRCm38)	missense	probably benign	0.28
R4976:Rlf	UTSW	4	121,147,455 (GRCm38)	missense	probably damaging	0.98
R5060:Rlf	UTSW	4	121,146,866 (GRCm38)	missense	probably benign	0.00
R5105:Rlf	UTSW	4	121,150,367 (GRCm38)	missense	probably damaging	1.00
R5119:Rlf	UTSW	4	121,147,455 (GRCm38)	missense	probably damaging	0.98
R5150:Rlf	UTSW	4	121,148,172 (GRCm38)	missense	probably damaging	1.00
R5198:Rlf	UTSW	4	121,148,553 (GRCm38)	nonsense	probably null
R5214:Rlf	UTSW	4	121,150,700 (GRCm38)	missense	probably damaging	1.00
R6084:Rlf	UTSW	4	121,149,215 (GRCm38)	missense	possibly damaging	0.95
R6131:Rlf	UTSW	4	121,154,975 (GRCm38)	missense	probably damaging	1.00
R6188:Rlf	UTSW	4	121,170,766 (GRCm38)	missense	probably damaging	1.00
R6313:Rlf	UTSW	4	121,148,610 (GRCm38)	missense	probably damaging	0.99
R6332:Rlf	UTSW	4	121,148,822 (GRCm38)	missense	possibly damaging	0.75
R6341:Rlf	UTSW	4	121,149,360 (GRCm38)	nonsense	probably null
R6413:Rlf	UTSW	4	121,147,325 (GRCm38)	missense	probably damaging	1.00
R6683:Rlf	UTSW	4	121,147,926 (GRCm38)	missense	probably damaging	1.00
R7066:Rlf	UTSW	4	121,148,787 (GRCm38)	missense	probably benign
R7413:Rlf	UTSW	4	121,150,100 (GRCm38)	missense	probably damaging	1.00
R7640:Rlf	UTSW	4	121,146,801 (GRCm38)	missense	possibly damaging	0.96
R7641:Rlf	UTSW	4	121,159,196 (GRCm38)	missense	probably damaging	1.00
R7855:Rlf	UTSW	4	121,182,691 (GRCm38)	missense	possibly damaging	0.93
R8127:Rlf	UTSW	4	121,147,896 (GRCm38)	missense	possibly damaging	0.89
R8146:Rlf	UTSW	4	121,147,232 (GRCm38)	missense	probably benign	0.16
R8182:Rlf	UTSW	4	121,150,905 (GRCm38)	missense	possibly damaging	0.94
R8350:Rlf	UTSW	4	121,170,757 (GRCm38)	missense	probably damaging	0.98
R8375:Rlf	UTSW	4	121,148,335 (GRCm38)	missense	probably damaging	0.96
R8754:Rlf	UTSW	4	121,146,813 (GRCm38)	missense	possibly damaging	0.90
R8837:Rlf	UTSW	4	121,188,235 (GRCm38)	missense	probably benign	0.06
R8901:Rlf	UTSW	4	121,146,813 (GRCm38)	missense	possibly damaging	0.90
R9054:Rlf	UTSW	4	121,150,587 (GRCm38)	missense	possibly damaging	0.47
R9090:Rlf	UTSW	4	121,147,554 (GRCm38)	missense	probably benign
R9144:Rlf	UTSW	4	121,146,703 (GRCm38)	missense	probably benign	0.16
R9265:Rlf	UTSW	4	121,150,290 (GRCm38)	missense	possibly damaging	0.63
R9271:Rlf	UTSW	4	121,147,554 (GRCm38)	missense	probably benign
R9549:Rlf	UTSW	4	121,148,123 (GRCm38)	missense	probably damaging	1.00
R9550:Rlf	UTSW	4	121,146,423 (GRCm38)	missense	probably damaging	1.00
R9570:Rlf	UTSW	4	121,149,890 (GRCm38)	missense	possibly damaging	0.90
R9627:Rlf	UTSW	4	121,149,805 (GRCm38)	nonsense	probably null
R9652:Rlf	UTSW	4	121,150,668 (GRCm38)	missense	probably damaging	1.00
Z1176:Rlf	UTSW	4	121,150,428 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTGAAGAGACTTAGCACCAC -3'
(R):5'- TCACCTGTGGTTTTGACGGC -3'

Sequencing Primer
(F):5'- CTGAAGAGACTTAGCACCACTAGATG -3'
(R):5'- TTGACGGCTGTGGCTCCAC -3'

Posted On

2015-04-17