Mutagenetix > Incidental Mutation

Incidental Mutation 'R6413:Rlf'

514805

Institutional Source

Beutler Lab

Gene Symbol

Rlf

Ensembl Gene

ENSMUSG00000049878

Gene Name

rearranged L-myc fusion sequence

Synonyms

9230110M18Rik, MommeD8

MMRRC Submission

044555-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121003080-121072318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121004522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1486 (V1486A)

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: V1596A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: V1596A

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: V1486A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: V1486A

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

0.4681

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (37/37)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,647 (GRCm39)		probably benign	Het
Agtpbp1	A	G	13: 59,647,834 (GRCm39)	V662A	possibly damaging	Het
Ambra1	T	G	2: 91,599,429 (GRCm39)	V183G	possibly damaging	Het
Amdhd2	A	G	17: 24,377,290 (GRCm39)	S208P	probably damaging	Het
Ankdd1a	C	T	9: 65,417,654 (GRCm39)	V133I	probably benign	Het
Ankrd35	A	G	3: 96,592,129 (GRCm39)	K805R	probably damaging	Het
Arhgap28	T	C	17: 68,182,583 (GRCm39)	Q270R	probably benign	Het
Cabp2	G	A	19: 4,135,698 (GRCm39)		probably null	Het
Ccnt1	A	G	15: 98,441,850 (GRCm39)	S473P	probably benign	Het
Cenpt	G	A	8: 106,572,973 (GRCm39)	P373S	possibly damaging	Het
Cyp3a44	T	A	5: 145,731,254 (GRCm39)	D182V	probably damaging	Het
Ddx54	A	G	5: 120,765,127 (GRCm39)	T799A	probably benign	Het
Dtna	T	A	18: 23,755,071 (GRCm39)	D464E	probably damaging	Het
E030025P04Rik	T	C	11: 109,030,425 (GRCm39)	Y154C	unknown	Het
Ephb2	C	A	4: 136,498,433 (GRCm39)	E215D	probably benign	Het
Eya4	T	C	10: 22,992,724 (GRCm39)	D445G	probably damaging	Het
Flg2	A	T	3: 93,127,683 (GRCm39)	L2198F	unknown	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,607,181 (GRCm39)	F496L	probably benign	Het
Numa1	A	T	7: 101,639,778 (GRCm39)		probably null	Het
Papola	T	C	12: 105,772,763 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,607,440 (GRCm39)	E1255G	probably damaging	Het
Rgs8	A	T	1: 153,568,619 (GRCm39)	D168V	probably damaging	Het
Rpa2	G	T	4: 132,501,156 (GRCm39)	A118S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina1f	T	A	12: 103,659,953 (GRCm39)	I110F	probably damaging	Het
Serpini2	T	C	3: 75,166,921 (GRCm39)	Y112C	probably damaging	Het
Sh2b3	A	G	5: 121,966,986 (GRCm39)	Y43H	probably damaging	Het
Shank2	A	G	7: 143,963,955 (GRCm39)	E514G	probably damaging	Het
Slc44a5	T	C	3: 153,963,387 (GRCm39)	F388S	probably benign	Het
Spmip6	A	T	4: 41,505,135 (GRCm39)	V196D	possibly damaging	Het
Tmem176b	T	C	6: 48,815,266 (GRCm39)	N9S	possibly damaging	Het
Trip11	T	A	12: 101,851,790 (GRCm39)	Q758L	probably benign	Het
Trrap	T	A	5: 144,720,856 (GRCm39)	I231N	possibly damaging	Het
Ttn	A	T	2: 76,730,397 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,870,973 (GRCm39)	N770S	probably damaging	Het
Vmn2r73	A	T	7: 85,519,544 (GRCm39)	Y471*	probably null	Het
Vmn2r8	T	G	5: 108,949,589 (GRCm39)	E419D	probably benign	Het
Wdfy4	C	A	14: 32,689,604 (GRCm39)	L2818F	probably damaging	Het
Zfhx4	A	T	3: 5,308,205 (GRCm39)	Y477F	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGCTGGGCAAGTAGAATCAG -3'
(R):5'- GCTGCCAAAAGGCCATTTAATAC -3'

Sequencing Primer
(F):5'- CTGGGCAAGTAGAATCAGTGTTTG -3'
(R):5'- TTACCTTTAAAACAAGAGCAGAAGC -3'

Posted On

2018-05-04