Mutagenetix > Incidental Mutation

Incidental Mutation 'R5745:Fer1l6'

445766

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1-like 6 (C. elegans)

Synonyms

EG631797

MMRRC Submission

043198-MU

Accession Numbers

Essential gene?

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

Stock #

R5745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58510048-58665092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58571389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 514 (I514V)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

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

AlphaFold

E0CZ42

Predicted Effect

probably benign
Transcript: ENSMUST00000161028
AA Change: I514V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: I514V

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,073 (GRCm38)	R74W	probably damaging	Het
4933407L21Rik	T	G	1: 85,931,274 (GRCm38)		probably null	Het
Adcy8	A	T	15: 64,920,471 (GRCm38)	I212N	possibly damaging	Het
Cobll1	T	C	2: 65,098,457 (GRCm38)	T879A	probably damaging	Het
Copb2	T	C	9: 98,574,111 (GRCm38)	S233P	probably damaging	Het
Cpa5	T	A	6: 30,630,437 (GRCm38)	M330K	probably damaging	Het
Dgcr8	A	T	16: 18,280,443 (GRCm38)	N361K	probably benign	Het
Dmxl1	A	G	18: 49,846,586 (GRCm38)	E96G	probably benign	Het
Dock8	T	A	19: 25,130,397 (GRCm38)	N830K	probably benign	Het
Ephb1	C	T	9: 102,195,434 (GRCm38)	D49N	probably benign	Het
Fam19a1	G	A	6: 96,649,185 (GRCm38)	R128Q	probably damaging	Het
Fpr1	A	G	17: 17,877,082 (GRCm38)	I215T	probably benign	Het
Hectd4	G	A	5: 121,353,502 (GRCm38)	V3668M	possibly damaging	Het
Ighv3-4	T	A	12: 114,253,768 (GRCm38)	I68L	probably benign	Het
Intu	A	G	3: 40,692,972 (GRCm38)		probably null	Het
Kel	C	T	6: 41,699,027 (GRCm38)	G243E	probably damaging	Het
Mycbp2	A	C	14: 103,156,453 (GRCm38)	S2781A	possibly damaging	Het
Myom2	T	A	8: 15,122,705 (GRCm38)	S1211T	probably benign	Het
Nrp1	A	T	8: 128,468,448 (GRCm38)	I462F	probably benign	Het
Olfr787	T	A	10: 129,463,438 (GRCm38)	I254N	probably damaging	Het
Olfr958	T	C	9: 39,550,691 (GRCm38)	Y60C	probably damaging	Het
Pcsk1	A	C	13: 75,131,960 (GRCm38)	S635R	probably benign	Het
Pms1	A	T	1: 53,207,702 (GRCm38)	Y280*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,920 (GRCm38)		probably benign	Het
Sema3b	C	A	9: 107,601,429 (GRCm38)	A356S	probably damaging	Het
Shoc2	C	A	19: 54,029,892 (GRCm38)	T485K	probably benign	Het
Slc7a7	G	A	14: 54,377,835 (GRCm38)	S235L	possibly damaging	Het
Smcr8	A	T	11: 60,784,151 (GRCm38)	T918S	probably benign	Het
Tle3	C	A	9: 61,414,851 (GRCm38)	F719L	probably damaging	Het
Vmn2r45	T	A	7: 8,483,075 (GRCm38)	I405L	probably benign	Het
Vmn2r57	A	T	7: 41,448,471 (GRCm38)	H57Q	possibly 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
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
R9160:Fer1l6	UTSW	15	58,643,866 (GRCm38)	missense	possibly damaging	0.94
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'- AATCAGTTTTCTTGTTCTCCATGGG -3'
(R):5'- CAGAAACTTTGCTCTCACCTGC -3'

Sequencing Primer
(F):5'- CCATGGGTTGTTCTTTCTGTC -3'
(R):5'- GCTCTCACCTGCCCTGTC -3'

Posted On

2016-11-21