Mutagenetix > Incidental Mutation

Incidental Mutation 'R9775:Fer1l6'

733658

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1-like 6 (C. elegans)

Synonyms

EG631797

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R9775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58510048-58665092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58625249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1223 (V1223I)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

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

AlphaFold

E0CZ42

Predicted Effect

probably benign
Transcript: ENSMUST00000161028
AA Change: V1223I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: V1223I

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	G	5: 113,723,704	Q35P	unknown	Het
Angptl2	G	A	2: 33,228,218	M1I	probably null	Het
B020004J07Rik	A	G	4: 101,837,047	M213T	probably benign	Het
Bptf	T	C	11: 107,043,676	E223G	probably benign	Het
C2cd3	T	A	7: 100,427,251	I805N		Het
Cep152	G	A	2: 125,581,740	Q914*	probably null	Het
Clasp2	A	G	9: 113,896,672	T794A	probably benign	Het
Cntnap2	A	G	6: 47,049,327	Y970C	probably damaging	Het
Ddx11	G	T	17: 66,138,162	V360L	probably damaging	Het
Fez2	A	T	17: 78,400,754	I255N	probably damaging	Het
Gata3	A	G	2: 9,858,386	V439A	possibly damaging	Het
Il23a	G	C	10: 128,296,960	R143G	probably benign	Het
Kcnj9	T	A	1: 172,326,174	I128F	probably damaging	Het
Klhdc2	A	G	12: 69,303,619	D146G	probably damaging	Het
Klra6	T	A	6: 130,022,676	R110W	probably damaging	Het
Ldha	A	T	7: 46,841,623		probably benign	Het
Lingo2	C	A	4: 35,708,781	A400S	probably benign	Het
Lrrd1	A	T	5: 3,849,897	R67S	probably benign	Het
Mapk6	C	T	9: 75,388,386	C610Y	possibly damaging	Het
Mia3	G	A	1: 183,328,270	R656*	probably null	Het
Myoz2	T	C	3: 123,013,750	E137G	probably damaging	Het
Nemp2	T	A	1: 52,640,905	I96N	probably damaging	Het
Npy1r	A	G	8: 66,705,090	M351V	possibly damaging	Het
Nsg2	G	A	11: 32,055,029	S77N	possibly damaging	Het
Olfr1115	A	G	2: 87,252,224	M96V	probably damaging	Het
Olfr199	T	A	16: 59,215,706	R302S	possibly damaging	Het
Olfr787	T	C	10: 129,462,808	I44T	probably benign	Het
Osbpl9	G	A	4: 109,156,550		probably benign	Het
Pcolce2	G	A	9: 95,638,744	C58Y	probably damaging	Het
Piezo1	A	G	8: 122,482,188	F2480L	probably damaging	Het
Pip5k1c	T	A	10: 81,312,019	D419E	probably damaging	Het
Plppr1	A	T	4: 49,323,435	T242S	probably benign	Het
Ppp1r13b	A	C	12: 111,837,023	S254A	possibly damaging	Het
Ripk3	A	G	14: 55,785,795	L151S	unknown	Het
Scmh1	A	T	4: 120,483,623	M169L	probably benign	Het
Serpinb9d	A	T	13: 33,198,024	R159W	probably damaging	Het
Slc26a9	A	G	1: 131,763,232	R583G	possibly damaging	Het
Smim8	T	C	4: 34,769,068	E72G	probably damaging	Het
Sned1	A	G	1: 93,271,882	N511S	probably damaging	Het
Srprb	A	C	9: 103,201,291	V80G	probably benign	Het
Ssx2ip	G	A	3: 146,431,053	S352N	probably benign	Het
Tbccd1	A	G	16: 22,833,916	S152P	probably damaging	Het
Tenm4	T	C	7: 96,906,554	I2822T	possibly damaging	Het
Tff1	A	G	17: 31,164,998	V8A	probably benign	Het
Tmem132b	T	A	5: 125,787,502	S891T	probably benign	Het
Tmem200c	T	A	17: 68,842,123	V567D	probably damaging	Het
Trim3	G	A	7: 105,611,170	T708M	probably damaging	Het
Ttn	T	C	2: 76,714,583	N32725S	possibly damaging	Het
Ubash3b	T	G	9: 41,014,918	E633A	possibly damaging	Het
Usp4	A	G	9: 108,362,581	R170G	probably damaging	Het
Wdr33	T	A	18: 31,904,353	L1222Q	unknown	Het
Zfhx2	A	G	14: 55,067,105	S1141P	probably benign	Het

Other mutations in Fer1l6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0009:Fer1l6	UTSW	15	58662787	missense	probably damaging	1.00
R0141:Fer1l6	UTSW	15	58558402	missense	probably damaging	1.00
R0178:Fer1l6	UTSW	15	58637914	splice site	probably null
R0304:Fer1l6	UTSW	15	58590562	missense	probably benign	0.08
R0379:Fer1l6	UTSW	15	58548338	missense	probably benign	0.05
R0457:Fer1l6	UTSW	15	58638094	critical splice donor site	probably null
R0546:Fer1l6	UTSW	15	58558408	splice site	probably null
R0602:Fer1l6	UTSW	15	58577945	missense	probably damaging	0.98
R0619:Fer1l6	UTSW	15	58662935	splice site	probably null
R0669:Fer1l6	UTSW	15	58553724	splice site	probably null
R0854:Fer1l6	UTSW	15	58559188	missense	probably benign	0.00
R0948:Fer1l6	UTSW	15	58564075	missense	probably benign	0.00
R1180:Fer1l6	UTSW	15	58602311	splice site	probably benign
R1483:Fer1l6	UTSW	15	58637970	missense	possibly damaging	0.84
R1627:Fer1l6	UTSW	15	58641879	missense	probably benign	0.41
R1635:Fer1l6	UTSW	15	58647081	missense	probably damaging	1.00
R1834:Fer1l6	UTSW	15	58557869	missense	possibly damaging	0.58
R1921:Fer1l6	UTSW	15	58625231	missense	probably damaging	1.00
R2000:Fer1l6	UTSW	15	58602311	splice site	probably benign
R2041:Fer1l6	UTSW	15	58558306	missense	probably damaging	1.00
R2144:Fer1l6	UTSW	15	58627534	missense	probably benign
R2145:Fer1l6	UTSW	15	58627534	missense	probably benign
R2981:Fer1l6	UTSW	15	58564077	missense	probably damaging	0.99
R4164:Fer1l6	UTSW	15	58559238	missense	possibly damaging	0.83
R4192:Fer1l6	UTSW	15	58647149	missense	probably damaging	1.00
R4273:Fer1l6	UTSW	15	58627522	missense	probably benign	0.41
R4573:Fer1l6	UTSW	15	58626280	critical splice donor site	probably null
R4581:Fer1l6	UTSW	15	58640226	missense	probably damaging	1.00
R4624:Fer1l6	UTSW	15	58553705	missense	probably damaging	1.00
R4755:Fer1l6	UTSW	15	58640211	missense	probably benign	0.09
R4774:Fer1l6	UTSW	15	58577949	missense	probably damaging	0.99
R4894:Fer1l6	UTSW	15	58618902	missense	probably damaging	1.00
R4896:Fer1l6	UTSW	15	58638020	missense	probably damaging	1.00
R4921:Fer1l6	UTSW	15	58600311	critical splice acceptor site	probably null
R4962:Fer1l6	UTSW	15	58571401	missense	probably benign	0.03
R5029:Fer1l6	UTSW	15	58643920	missense	probably benign	0.00
R5134:Fer1l6	UTSW	15	58640154	missense	probably damaging	1.00
R5175:Fer1l6	UTSW	15	58550277	missense	probably damaging	1.00
R5227:Fer1l6	UTSW	15	58581903	nonsense	probably null
R5561:Fer1l6	UTSW	15	58660825	missense	probably damaging	0.97
R5621:Fer1l6	UTSW	15	58558326	missense	probably damaging	1.00
R5670:Fer1l6	UTSW	15	58622482	missense	probably benign	0.00
R5745:Fer1l6	UTSW	15	58571389	missense	probably benign	0.01
R5807:Fer1l6	UTSW	15	58590550	nonsense	probably null
R5823:Fer1l6	UTSW	15	58590503	nonsense	probably null
R5892:Fer1l6	UTSW	15	58564068	missense	probably benign
R6006:Fer1l6	UTSW	15	58647044	missense	probably damaging	1.00
R6137:Fer1l6	UTSW	15	58559206	missense	probably damaging	0.97
R6195:Fer1l6	UTSW	15	58637957	missense	probably damaging	1.00
R6234:Fer1l6	UTSW	15	58560639	missense	probably damaging	1.00
R6237:Fer1l6	UTSW	15	58625177	nonsense	probably null
R6237:Fer1l6	UTSW	15	58638006	missense	probably damaging	1.00
R6271:Fer1l6	UTSW	15	58641918	missense	probably benign	0.01
R6336:Fer1l6	UTSW	15	58559232	nonsense	probably null
R6784:Fer1l6	UTSW	15	58571426	missense	possibly damaging	0.63
R6852:Fer1l6	UTSW	15	58594878	missense	probably damaging	1.00
R7030:Fer1l6	UTSW	15	58629378	missense	probably damaging	1.00
R7088:Fer1l6	UTSW	15	58564050	missense	possibly damaging	0.69
R7181:Fer1l6	UTSW	15	58575297	missense	probably benign	0.00
R7226:Fer1l6	UTSW	15	58590535	missense	probably benign	0.00
R7266:Fer1l6	UTSW	15	58627597	missense	probably benign
R7463:Fer1l6	UTSW	15	58573601	nonsense	probably null
R7464:Fer1l6	UTSW	15	58573247	splice site	probably null
R7469:Fer1l6	UTSW	15	58590570	splice site	probably null
R7483:Fer1l6	UTSW	15	58641945	missense	possibly damaging	0.83
R7491:Fer1l6	UTSW	15	58600432	missense	probably damaging	1.00
R7534:Fer1l6	UTSW	15	58638026	missense	probably damaging	1.00
R7562:Fer1l6	UTSW	15	58560482	missense	probably benign	0.00
R7580:Fer1l6	UTSW	15	58558396	missense	probably benign	0.41
R7599:Fer1l6	UTSW	15	58627589	missense	probably benign
R7607:Fer1l6	UTSW	15	58662732	nonsense	probably null
R7677:Fer1l6	UTSW	15	58602290	missense	probably benign	0.00
R8202:Fer1l6	UTSW	15	58630637	missense	probably damaging	1.00
R8261:Fer1l6	UTSW	15	58560496	missense	possibly damaging	0.84
R8847:Fer1l6	UTSW	15	58542163	missense	possibly damaging	0.72
R9022:Fer1l6	UTSW	15	58583480	missense	probably damaging	0.99
R9030:Fer1l6	UTSW	15	58630745	missense	probably damaging	1.00
R9160:Fer1l6	UTSW	15	58643866	missense	possibly damaging	0.94
R9180:Fer1l6	UTSW	15	58622381	missense	probably benign	0.19
R9289:Fer1l6	UTSW	15	58618917	missense	probably damaging	1.00
R9559:Fer1l6	UTSW	15	58557910	missense	possibly damaging	0.88
R9562:Fer1l6	UTSW	15	58618521	missense	possibly damaging	0.70
R9682:Fer1l6	UTSW	15	58550264	missense	probably benign	0.03
X0021:Fer1l6	UTSW	15	58569202	nonsense	probably null
X0027:Fer1l6	UTSW	15	58629340	missense	probably damaging	1.00
X0063:Fer1l6	UTSW	15	58618574	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGAGCAAGCCTCATTCAAC -3'
(R):5'- AATGCAAAATTCTGCTGAAGCC -3'

Sequencing Primer
(F):5'- AAACAGGCTGCCTTTCACGG -3'
(R):5'- AATTCTGCTGAAGCCCTGAG -3'

Posted On

2022-11-14