Mutagenetix > Incidental Mutation

Incidental Mutation 'R7677:Fer1l6'

592533

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 #

R7677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58510048-58665092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58602290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 955 (V955A)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

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

AlphaFold

E0CZ42

Predicted Effect

probably benign
Transcript: ENSMUST00000161028
AA Change: V955A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: V955A

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,298,349	R2699*	probably null	Het
Adra2a	G	A	19: 54,046,944	V244M	probably damaging	Het
Apba2	A	G	7: 64,695,097	S12G	probably benign	Het
Arhgap20	T	A	9: 51,840,398	M383K	probably damaging	Het
Armc12	T	C	17: 28,537,891	V210A	probably benign	Het
Ash1l	A	T	3: 89,043,193	H2131L	probably damaging	Het
Atg5	T	C	10: 44,347,039	L219P	probably damaging	Het
Atp2c2	A	T	8: 119,748,176	M507L	probably benign	Het
Atr	T	A	9: 95,885,462	L1191I	probably damaging	Het
B4galt5	T	C	2: 167,305,078	T279A	probably damaging	Het
Bglap2	T	C	3: 88,377,973	E62G	probably damaging	Het
Card6	A	G	15: 5,098,444	S1157P	unknown	Het
Ccdc17	T	C	4: 116,597,765		probably null	Het
Cdc6	T	A	11: 98,919,365	L500*	probably null	Het
Dst	G	T	1: 34,169,322		probably null	Het
Fbxw7	C	T	3: 84,904,066	T166I		Het
Fezf2	T	C	14: 12,344,941	E82G	probably benign	Het
Flii	T	C	11: 60,720,145	D486G	probably damaging	Het
Fndc3a	T	C	14: 72,567,414	T476A	probably benign	Het
Gbp3	C	T	3: 142,560,503		probably benign	Het
Gm9268	A	C	7: 43,024,739	H414P	probably damaging	Het
Hebp2	T	C	10: 18,545,799		probably benign	Het
Hhipl2	T	A	1: 183,424,043	M88K	possibly damaging	Het
Hip1	A	G	5: 135,430,317	C605R	probably benign	Het
Hoxd13	T	C	2: 74,668,565	S86P	probably benign	Het
Hspa12a	G	T	19: 58,860,885	A2E	probably benign	Het
Il1rl1	A	C	1: 40,446,704	*338C	probably null	Het
Lrrc37a	G	T	11: 103,499,638	P1654T	probably benign	Het
Mybpc3	A	T	2: 91,129,031	D704V	probably benign	Het
Napsa	A	T	7: 44,581,706	K120*	probably null	Het
Nat3	A	C	8: 67,547,487	Y6S	probably damaging	Het
Negr1	C	T	3: 157,069,186	Q180*	probably null	Het
Nynrin	T	A	14: 55,870,236	D933E	probably benign	Het
Olfr119	T	A	17: 37,701,066	I132K	probably damaging	Het
Olfr1413	C	T	1: 92,573,261	T30I	not run	Het
Olfr167	G	A	16: 19,514,928	A236V	probably benign	Het
Olfr420	A	T	1: 174,159,048	I92F	probably damaging	Het
Olfr894	T	A	9: 38,219,028	N65K	probably damaging	Het
Olfr905	T	A	9: 38,473,535	S263T	possibly damaging	Het
Olfr95	A	T	17: 37,211,495	Y119*	probably null	Het
Pbx1	A	T	1: 168,203,426	F208I	probably damaging	Het
Pcdha11	T	C	18: 37,011,552	V232A	probably damaging	Het
Pcsk5	A	G	19: 17,581,229	Y605H	possibly damaging	Het
Pde3a	T	A	6: 141,250,257	L223Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm2	G	A	5: 124,123,569	R977C	probably damaging	Het
Pkdrej	A	C	15: 85,815,587	D2049E	probably benign	Het
Psmd6	T	C	14: 14,120,837	D16G	probably benign	Het
Pth2r	C	A	1: 65,388,446	T426N	probably benign	Het
Ralgapa1	G	T	12: 55,659,143	L1865M	probably damaging	Het
Ryr3	T	A	2: 112,833,900	Q1702L	probably benign	Het
Sars2	A	G	7: 28,746,751	Y135C	probably benign	Het
Sdha	G	A	13: 74,333,053	R345*	probably null	Het
Selp	A	T	1: 164,133,956	S413C	probably damaging	Het
Sirt2	G	A	7: 28,785,410	C221Y	probably damaging	Het
Skiv2l	A	T	17: 34,848,164	S100T	probably benign	Het
Socs7	C	A	11: 97,389,642	Q566K	probably benign	Het
Spdye4c	G	A	2: 128,594,136	V151M	probably benign	Het
Srcap	A	G	7: 127,559,808	D2952G	unknown	Het
Srd5a2	A	T	17: 74,047,754	L25Q	probably damaging	Het
Srrt	A	T	5: 137,300,148	V254D	probably damaging	Het
Tap2	T	C	17: 34,205,520	F76L	probably benign	Het
Tdpoz4	T	A	3: 93,797,508	*371R	probably null	Het
Tm9sf3	A	T	19: 41,221,304	F441I	probably damaging	Het
Tmem259	C	T	10: 79,978,580	R314Q	probably damaging	Het
Trim28	G	T	7: 13,028,113	R312L	possibly damaging	Het
Tsc1	A	G	2: 28,672,817	T393A	probably benign	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 11,134,474		probably benign	Het
Ube2v2	T	C	16: 15,581,100	T42A	probably benign	Het
Zfp609	A	T	9: 65,697,174	S1342R	possibly damaging	Het
Zg16	A	T	7: 127,050,591	V66E	probably damaging	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
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
R9775:Fer1l6	UTSW	15	58625249	missense	probably benign
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'- ATGCTGGCCGGAACTAAGTG -3'
(R):5'- GTGCAACAGTTCTGGAAATAACTTG -3'

Sequencing Primer
(F):5'- CCGGAACTAAGTGGATGCCAATC -3'
(R):5'- AGTTTGTAAACATCAGCTTCCAGGTG -3'

Posted On

2019-11-12