Mutagenetix > Incidental Mutation

Incidental Mutation 'R8146:Rlf'

632800

Institutional Source

Beutler Lab

Gene Symbol

Rlf

Ensembl Gene

ENSMUSG00000049878

Gene Name

rearranged L-myc fusion sequence

Synonyms

9230110M18Rik, MommeD8

MMRRC Submission

067574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121003080-121072318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121004429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1627 (S1627L)

Ref Sequence

ENSEMBL: ENSMUSP00000050825 (fasta)

Gene Model

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

AlphaFold

A2A7F4

Predicted Effect

probably benign
Transcript: ENSMUST00000056635
AA Change: S1627L

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: S1627L

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: S1517L

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: S1517L

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.2%

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
4921504E06Rik	T	G	2: 19,498,814 (GRCm39)	E393A	possibly damaging	Het
4930550C14Rik	A	G	9: 53,334,270 (GRCm39)	D171G	probably damaging	Het
Abca13	T	C	11: 9,347,829 (GRCm39)	Y3561H	probably damaging	Het
Adgra2	T	A	8: 27,604,202 (GRCm39)	V464D	probably damaging	Het
Adgrl1	C	A	8: 84,657,618 (GRCm39)	T408N	possibly damaging	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Anks6	C	A	4: 47,043,605 (GRCm39)	A375S	unknown	Het
Bbs10	T	A	10: 111,136,396 (GRCm39)	I503K	probably benign	Het
Birc2	A	G	9: 7,818,797 (GRCm39)	I598T	probably damaging	Het
Cbl	A	T	9: 44,076,171 (GRCm39)	D339E	probably damaging	Het
Cdh4	C	A	2: 179,515,871 (GRCm39)	Q350K	possibly damaging	Het
Cep78	A	G	19: 15,933,727 (GRCm39)	L617P	probably damaging	Het
Cnbd2	T	G	2: 156,170,281 (GRCm39)	V122G	probably damaging	Het
Crem	A	T	18: 3,288,007 (GRCm39)	N158K	possibly damaging	Het
Cul1	T	C	6: 47,472,027 (GRCm39)	V56A	possibly damaging	Het
Dop1b	T	A	16: 93,546,827 (GRCm39)	I277N	possibly damaging	Het
Exoc3	T	C	13: 74,340,784 (GRCm39)	D340G	probably benign	Het
Exoc6b	A	C	6: 84,885,176 (GRCm39)	D254E	probably benign	Het
Fyttd1	A	G	16: 32,722,862 (GRCm39)	K268E	probably damaging	Het
Gbp8	T	A	5: 105,178,844 (GRCm39)	N157I	probably benign	Het
Hacd1	T	A	2: 14,049,605 (GRCm39)	S118C	probably damaging	Het
Hcn4	A	C	9: 58,731,027 (GRCm39)	E78A	unknown	Het
Inpp5e	T	A	2: 26,289,274 (GRCm39)	T549S	probably benign	Het
Kcnh4	T	C	11: 100,646,105 (GRCm39)	N281S	probably damaging	Het
Kdm5b	A	G	1: 134,552,864 (GRCm39)	D1280G	probably benign	Het
Lrfn3	A	G	7: 30,059,304 (GRCm39)	V307A	probably benign	Het
Mafb	A	G	2: 160,208,298 (GRCm39)	L100P	probably damaging	Het
Med24	C	T	11: 98,608,940 (GRCm39)	G119R	probably benign	Het
Mvp	G	T	7: 126,586,171 (GRCm39)	P866Q	probably benign	Het
Or51l4	A	G	7: 103,404,510 (GRCm39)	I94T	probably damaging	Het
Phykpl	T	C	11: 51,476,408 (GRCm39)	Y43H	probably damaging	Het
Prag1	T	G	8: 36,571,364 (GRCm39)	L649R	probably damaging	Het
Ptgdr2	T	C	19: 10,918,361 (GRCm39)	F293L	probably damaging	Het
Rasip1	T	G	7: 45,279,704 (GRCm39)	S316A	possibly damaging	Het
Rtl1	T	C	12: 109,557,145 (GRCm39)	R1565G	probably benign	Het
Sart3	G	A	5: 113,886,018 (GRCm39)	T572M	probably damaging	Het
Sec24b	G	T	3: 129,789,573 (GRCm39)	S816*	probably null	Het
Slamf1	C	T	1: 171,619,887 (GRCm39)	P279L	probably benign	Het
Slc18a1	C	A	8: 69,495,401 (GRCm39)	V368F	possibly damaging	Het
Tap1	A	T	17: 34,408,206 (GRCm39)	D194V	probably damaging	Het
Tuba1c	A	G	15: 98,935,496 (GRCm39)	Y319C	probably damaging	Het
Unc79	T	A	12: 103,036,416 (GRCm39)	I579N	probably damaging	Het
Zbtb22	G	T	17: 34,135,956 (GRCm39)	V34L	probably damaging	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
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
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'- CACTGTTCCAAAGAAGTGGTTTCTG -3'
(R):5'- AGTACCCGTGCATGGTTCAG -3'

Sequencing Primer
(F):5'- TCCAAAGAAGTGGTTTCTGAAGAATG -3'
(R):5'- TCTGTGGTGAAGCTGGAAAGC -3'

Posted On

2020-06-30