Mutagenetix > Incidental Mutation

Incidental Mutation 'R9160:Fer1l6'

695659

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1-like 6 (C. elegans)

Synonyms

EG631797

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R9160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58510048-58665092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58643866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1601 (E1601K)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161028]

AlphaFold

E0CZ42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161028
AA Change: E1601K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: E1601K

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
C2	83	179	4.09e-12	SMART
FerI	165	235	2.06e-36	SMART
C2	243	354	5.19e-14	SMART
low complexity region	412	449	N/A	INTRINSIC
FerB	714	787	2.53e-45	SMART
C2	829	936	8.84e-8	SMART
C2	1000	1099	3.05e0	SMART
low complexity region	1189	1203	N/A	INTRINSIC
low complexity region	1256	1270	N/A	INTRINSIC
C2	1361	1460	5.78e-12	SMART
low complexity region	1518	1529	N/A	INTRINSIC
C2	1601	1731	1.01e-2	SMART
Pfam:Ferlin_C	1765	1857	2.3e-40	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	A	16: 20,560,496 (GRCm38)	R704H	possibly damaging	Het
Akap13	T	C	7: 75,735,778 (GRCm38)	F533L	possibly damaging	Het
Ank3	G	A	10: 70,002,474 (GRCm38)	V1771I	unknown	Het
Aspm	T	C	1: 139,490,124 (GRCm38)	L2911S	probably damaging	Het
Atp2b4	T	C	1: 133,732,405 (GRCm38)	I380V	probably benign	Het
C2cd3	T	A	7: 100,426,029 (GRCm38)	L739I		Het
Cacng6	T	C	7: 3,434,890 (GRCm38)	S245P	probably benign	Het
Chd5	A	G	4: 152,385,459 (GRCm38)	S1830G	probably damaging	Het
Col20a1	T	C	2: 180,999,745 (GRCm38)	M660T	probably benign	Het
Dnajc6	G	A	4: 101,613,061 (GRCm38)		probably benign	Het
Dock7	A	G	4: 98,969,725 (GRCm38)	S1451P	unknown	Het
Ehd4	A	G	2: 120,136,959 (GRCm38)	V118A	probably damaging	Het
Espl1	A	G	15: 102,298,518 (GRCm38)	D139G	probably damaging	Het
Fermt3	A	T	19: 7,014,417 (GRCm38)	L142Q	probably damaging	Het
Gfral	A	T	9: 76,197,090 (GRCm38)	N213K	possibly damaging	Het
Gria4	A	G	9: 4,424,412 (GRCm38)	F818L	probably damaging	Het
H2-Eb1	A	T	17: 34,309,857 (GRCm38)	R121*	probably null	Het
Hoxd9	A	G	2: 74,699,417 (GRCm38)	D339G	unknown	Het
Hpn	G	T	7: 31,108,977 (GRCm38)	P78T	probably benign	Het
Inpp4b	T	A	8: 81,884,153 (GRCm38)	V175E	possibly damaging	Het
Itpr2	A	G	6: 146,374,601 (GRCm38)	L736P	probably damaging	Het
Klhl6	G	T	16: 19,957,022 (GRCm38)	P262Q	probably damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Mc5r	A	T	18: 68,339,134 (GRCm38)	Y188F	probably damaging	Het
Mob1b	T	C	5: 88,756,158 (GRCm38)	S218P	probably benign	Het
Mrgprb2	T	C	7: 48,552,234 (GRCm38)	I248V	possibly damaging	Het
Muc5ac	T	C	7: 141,809,792 (GRCm38)	I2280T	unknown	Het
Olfr1018	T	A	2: 85,822,974 (GRCm38)	M1K	probably null	Het
Olfr1052	A	T	2: 86,297,986 (GRCm38)	T57S	probably benign	Het
Olfr1394	G	T	11: 49,160,434 (GRCm38)	W140L	probably damaging	Het
Olfr389	A	T	11: 73,777,055 (GRCm38)	S91T	probably benign	Het
Pcdhga8	T	A	18: 37,727,412 (GRCm38)	I507N	probably damaging	Het
Pkd1l2	T	C	8: 117,040,669 (GRCm38)	D1294G	possibly damaging	Het
Psg28	A	G	7: 18,430,715 (GRCm38)	L24P	probably damaging	Het
Ptk2	A	T	15: 73,216,084 (GRCm38)	D868E	probably benign	Het
Ptpn6	G	C	6: 124,728,172 (GRCm38)	R264G	possibly damaging	Het
Rnf10	T	A	5: 115,260,190 (GRCm38)	M95L	probably benign	Het
Rnf40	C	T	7: 127,591,821 (GRCm38)	T326I	probably damaging	Het
Rp1	G	T	1: 4,346,497 (GRCm38)	T1464K	probably benign	Het
Satb1	T	C	17: 51,740,025 (GRCm38)	E723G	probably benign	Het
Scgb3a2	T	A	18: 43,767,380 (GRCm38)		probably benign	Het
Sidt2	A	G	9: 45,946,982 (GRCm38)		probably null	Het
Sorcs1	A	T	19: 50,225,220 (GRCm38)	C690S	probably damaging	Het
Spag16	T	A	1: 69,923,714 (GRCm38)	M340K	probably benign	Het
Stk3	A	G	15: 35,099,465 (GRCm38)	V107A	probably damaging	Het
Tlr1	T	A	5: 64,926,310 (GRCm38)	H308L	probably benign	Het
Tmx2	A	G	2: 84,673,563 (GRCm38)	F162S	probably damaging	Het
Vmn2r57	C	T	7: 41,426,735 (GRCm38)	S451N	possibly damaging	Het
Zbtb49	T	A	5: 38,205,902 (GRCm38)	I446F	probably damaging	Het
Zdhhc17	A	T	10: 110,947,328 (GRCm38)	I493N	probably damaging	Het

Other mutations in Fer1l6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0009:Fer1l6	UTSW	15	58,662,787 (GRCm38)	missense	probably damaging	1.00
R0141:Fer1l6	UTSW	15	58,558,402 (GRCm38)	missense	probably damaging	1.00
R0178:Fer1l6	UTSW	15	58,637,914 (GRCm38)	splice site	probably null
R0304:Fer1l6	UTSW	15	58,590,562 (GRCm38)	missense	probably benign	0.08
R0379:Fer1l6	UTSW	15	58,548,338 (GRCm38)	missense	probably benign	0.05
R0457:Fer1l6	UTSW	15	58,638,094 (GRCm38)	critical splice donor site	probably null
R0546:Fer1l6	UTSW	15	58,558,408 (GRCm38)	splice site	probably null
R0602:Fer1l6	UTSW	15	58,577,945 (GRCm38)	missense	probably damaging	0.98
R0619:Fer1l6	UTSW	15	58,662,935 (GRCm38)	splice site	probably null
R0669:Fer1l6	UTSW	15	58,553,724 (GRCm38)	splice site	probably null
R0854:Fer1l6	UTSW	15	58,559,188 (GRCm38)	missense	probably benign	0.00
R0948:Fer1l6	UTSW	15	58,564,075 (GRCm38)	missense	probably benign	0.00
R1180:Fer1l6	UTSW	15	58,602,311 (GRCm38)	splice site	probably benign
R1483:Fer1l6	UTSW	15	58,637,970 (GRCm38)	missense	possibly damaging	0.84
R1627:Fer1l6	UTSW	15	58,641,879 (GRCm38)	missense	probably benign	0.41
R1635:Fer1l6	UTSW	15	58,647,081 (GRCm38)	missense	probably damaging	1.00
R1834:Fer1l6	UTSW	15	58,557,869 (GRCm38)	missense	possibly damaging	0.58
R1921:Fer1l6	UTSW	15	58,625,231 (GRCm38)	missense	probably damaging	1.00
R2000:Fer1l6	UTSW	15	58,602,311 (GRCm38)	splice site	probably benign
R2041:Fer1l6	UTSW	15	58,558,306 (GRCm38)	missense	probably damaging	1.00
R2144:Fer1l6	UTSW	15	58,627,534 (GRCm38)	missense	probably benign
R2145:Fer1l6	UTSW	15	58,627,534 (GRCm38)	missense	probably benign
R2981:Fer1l6	UTSW	15	58,564,077 (GRCm38)	missense	probably damaging	0.99
R4164:Fer1l6	UTSW	15	58,559,238 (GRCm38)	missense	possibly damaging	0.83
R4192:Fer1l6	UTSW	15	58,647,149 (GRCm38)	missense	probably damaging	1.00
R4273:Fer1l6	UTSW	15	58,627,522 (GRCm38)	missense	probably benign	0.41
R4573:Fer1l6	UTSW	15	58,626,280 (GRCm38)	critical splice donor site	probably null
R4581:Fer1l6	UTSW	15	58,640,226 (GRCm38)	missense	probably damaging	1.00
R4624:Fer1l6	UTSW	15	58,553,705 (GRCm38)	missense	probably damaging	1.00
R4755:Fer1l6	UTSW	15	58,640,211 (GRCm38)	missense	probably benign	0.09
R4774:Fer1l6	UTSW	15	58,577,949 (GRCm38)	missense	probably damaging	0.99
R4894:Fer1l6	UTSW	15	58,618,902 (GRCm38)	missense	probably damaging	1.00
R4896:Fer1l6	UTSW	15	58,638,020 (GRCm38)	missense	probably damaging	1.00
R4921:Fer1l6	UTSW	15	58,600,311 (GRCm38)	critical splice acceptor site	probably null
R4962:Fer1l6	UTSW	15	58,571,401 (GRCm38)	missense	probably benign	0.03
R5029:Fer1l6	UTSW	15	58,643,920 (GRCm38)	missense	probably benign	0.00
R5134:Fer1l6	UTSW	15	58,640,154 (GRCm38)	missense	probably damaging	1.00
R5175:Fer1l6	UTSW	15	58,550,277 (GRCm38)	missense	probably damaging	1.00
R5227:Fer1l6	UTSW	15	58,581,903 (GRCm38)	nonsense	probably null
R5561:Fer1l6	UTSW	15	58,660,825 (GRCm38)	missense	probably damaging	0.97
R5621:Fer1l6	UTSW	15	58,558,326 (GRCm38)	missense	probably damaging	1.00
R5670:Fer1l6	UTSW	15	58,622,482 (GRCm38)	missense	probably benign	0.00
R5745:Fer1l6	UTSW	15	58,571,389 (GRCm38)	missense	probably benign	0.01
R5807:Fer1l6	UTSW	15	58,590,550 (GRCm38)	nonsense	probably null
R5823:Fer1l6	UTSW	15	58,590,503 (GRCm38)	nonsense	probably null
R5892:Fer1l6	UTSW	15	58,564,068 (GRCm38)	missense	probably benign
R6006:Fer1l6	UTSW	15	58,647,044 (GRCm38)	missense	probably damaging	1.00
R6137:Fer1l6	UTSW	15	58,559,206 (GRCm38)	missense	probably damaging	0.97
R6195:Fer1l6	UTSW	15	58,637,957 (GRCm38)	missense	probably damaging	1.00
R6234:Fer1l6	UTSW	15	58,560,639 (GRCm38)	missense	probably damaging	1.00
R6237:Fer1l6	UTSW	15	58,638,006 (GRCm38)	missense	probably damaging	1.00
R6237:Fer1l6	UTSW	15	58,625,177 (GRCm38)	nonsense	probably null
R6271:Fer1l6	UTSW	15	58,641,918 (GRCm38)	missense	probably benign	0.01
R6336:Fer1l6	UTSW	15	58,559,232 (GRCm38)	nonsense	probably null
R6784:Fer1l6	UTSW	15	58,571,426 (GRCm38)	missense	possibly damaging	0.63
R6852:Fer1l6	UTSW	15	58,594,878 (GRCm38)	missense	probably damaging	1.00
R7030:Fer1l6	UTSW	15	58,629,378 (GRCm38)	missense	probably damaging	1.00
R7088:Fer1l6	UTSW	15	58,564,050 (GRCm38)	missense	possibly damaging	0.69
R7181:Fer1l6	UTSW	15	58,575,297 (GRCm38)	missense	probably benign	0.00
R7226:Fer1l6	UTSW	15	58,590,535 (GRCm38)	missense	probably benign	0.00
R7266:Fer1l6	UTSW	15	58,627,597 (GRCm38)	missense	probably benign
R7463:Fer1l6	UTSW	15	58,573,601 (GRCm38)	nonsense	probably null
R7464:Fer1l6	UTSW	15	58,573,247 (GRCm38)	splice site	probably null
R7469:Fer1l6	UTSW	15	58,590,570 (GRCm38)	splice site	probably null
R7483:Fer1l6	UTSW	15	58,641,945 (GRCm38)	missense	possibly damaging	0.83
R7491:Fer1l6	UTSW	15	58,600,432 (GRCm38)	missense	probably damaging	1.00
R7534:Fer1l6	UTSW	15	58,638,026 (GRCm38)	missense	probably damaging	1.00
R7562:Fer1l6	UTSW	15	58,560,482 (GRCm38)	missense	probably benign	0.00
R7580:Fer1l6	UTSW	15	58,558,396 (GRCm38)	missense	probably benign	0.41
R7599:Fer1l6	UTSW	15	58,627,589 (GRCm38)	missense	probably benign
R7607:Fer1l6	UTSW	15	58,662,732 (GRCm38)	nonsense	probably null
R7677:Fer1l6	UTSW	15	58,602,290 (GRCm38)	missense	probably benign	0.00
R8202:Fer1l6	UTSW	15	58,630,637 (GRCm38)	missense	probably damaging	1.00
R8261:Fer1l6	UTSW	15	58,560,496 (GRCm38)	missense	possibly damaging	0.84
R8847:Fer1l6	UTSW	15	58,542,163 (GRCm38)	missense	possibly damaging	0.72
R9022:Fer1l6	UTSW	15	58,583,480 (GRCm38)	missense	probably damaging	0.99
R9030:Fer1l6	UTSW	15	58,630,745 (GRCm38)	missense	probably damaging	1.00
R9180:Fer1l6	UTSW	15	58,622,381 (GRCm38)	missense	probably benign	0.19
R9289:Fer1l6	UTSW	15	58,618,917 (GRCm38)	missense	probably damaging	1.00
R9559:Fer1l6	UTSW	15	58,557,910 (GRCm38)	missense	possibly damaging	0.88
R9562:Fer1l6	UTSW	15	58,618,521 (GRCm38)	missense	possibly damaging	0.70
R9682:Fer1l6	UTSW	15	58,550,264 (GRCm38)	missense	probably benign	0.03
R9775:Fer1l6	UTSW	15	58,625,249 (GRCm38)	missense	probably benign
X0021:Fer1l6	UTSW	15	58,569,202 (GRCm38)	nonsense	probably null
X0027:Fer1l6	UTSW	15	58,629,340 (GRCm38)	missense	probably damaging	1.00
X0063:Fer1l6	UTSW	15	58,618,574 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGAAGGAGGAGCTACTCTG -3'
(R):5'- TTCCTTCCGTGGACTGTGAG -3'

Sequencing Primer
(F):5'- AGGAGCTACTCTGACCGACTC -3'
(R):5'- ACTGTGAGTGGTGGCTTCC -3'

Posted On

2022-01-20