Mutagenetix > Incidental Mutation

Incidental Mutation 'R6416:Ftl1'

517927

Institutional Source

Beutler Lab

Gene Symbol

Ftl1

Ensembl Gene

ENSMUSG00000050708

Gene Name

ferritin light polypeptide 1

Synonyms

Ftl, L-ferritin

MMRRC Submission

044558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6416 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45457944-45459884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45459210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 41 (D41E)

Ref Sequence

ENSEMBL: ENSMUSP00000147389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000033093] [ENSMUST00000094434] [ENSMUST00000210106] [ENSMUST00000210392] [ENSMUST00000210864] [ENSMUST00000211150] [ENSMUST00000211365]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003964

SMART Domains

Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:Glyco_transf_5	28	274	5.2e-8	PFAM
Pfam:Glycogen_syn	31	663	N/A	PFAM
low complexity region	670	686	N/A	INTRINSIC
low complexity region	698	711	N/A	INTRINSIC
low complexity region	716	733	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000033093

SMART Domains

Protein: ENSMUSP00000033093
Gene: ENSMUSG00000003873

Domain	Start	End	E-Value	Type
BCL	63	158	3.96e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094434
AA Change: D41E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092002
Gene: ENSMUSG00000050708
AA Change: D41E

Domain	Start	End	E-Value	Type
Pfam:Ferritin	14	155	4.4e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209541

Predicted Effect

probably benign
Transcript: ENSMUST00000209640

Predicted Effect

probably benign
Transcript: ENSMUST00000210106
AA Change: D41E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210375

Predicted Effect

probably benign
Transcript: ENSMUST00000210392

Predicted Effect

probably benign
Transcript: ENSMUST00000210864
AA Change: D41E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000211150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211500

Predicted Effect

probably benign
Transcript: ENSMUST00000211365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211615

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display partial lethality during organogenesis, decreased circulating, liver and reticuloendothelial cell iron levels, head tilt, and unidirectional circling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891 (GRCm38)	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270 (GRCm38)	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239 (GRCm38)	M1K	probably null	Het
Atl2	G	A	17: 79,850,223 (GRCm38)	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343 (GRCm38)	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780 (GRCm38)	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534 (GRCm38)	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662 (GRCm38)	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649 (GRCm38)	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560 (GRCm38)	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950 (GRCm38)	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681 (GRCm38)	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635 (GRCm38)	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128 (GRCm38)	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757 (GRCm38)	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653 (GRCm38)	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378 (GRCm38)	T1965A	probably benign	Het
Garem2	G	A	5: 30,116,737 (GRCm38)	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906 (GRCm38)	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590 (GRCm38)	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210 (GRCm38)	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205 (GRCm38)	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359 (GRCm38)	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154 (GRCm38)	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907 (GRCm38)	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932 (GRCm38)	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244 (GRCm38)	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236 (GRCm38)	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456 (GRCm38)	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754 (GRCm38)	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328 (GRCm38)	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767 (GRCm38)	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053 (GRCm38)	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080 (GRCm38)	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522 (GRCm38)	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340 (GRCm38)	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892 (GRCm38)	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891 (GRCm38)	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448 (GRCm38)	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169 (GRCm38)		probably null	Het
Pi4ka	T	C	16: 17,358,322 (GRCm38)	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609 (GRCm38)	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138 (GRCm38)	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287 (GRCm38)		probably null	Het
Rbak	G	T	5: 143,176,552 (GRCm38)	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961 (GRCm38)	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873 (GRCm38)	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854 (GRCm38)	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729 (GRCm38)	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627 (GRCm38)	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759 (GRCm38)	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921 (GRCm38)	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057 (GRCm38)	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267 (GRCm38)	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139 (GRCm38)	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205 (GRCm38)	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794 (GRCm38)	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981 (GRCm38)	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816 (GRCm38)	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330 (GRCm38)	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031 (GRCm38)	*487K	probably null	Het
Unc79	T	A	12: 103,131,646 (GRCm38)	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116 (GRCm38)	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738 (GRCm38)	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902 (GRCm38)	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639 (GRCm38)	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810 (GRCm38)	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720 (GRCm38)	H292L	possibly damaging	Het

Other mutations in Ftl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Ftl1	APN	7	45,458,646 (GRCm38)	missense	probably benign	0.42
R6916:Ftl1	UTSW	7	45,459,540 (GRCm38)	missense	probably damaging	0.98
R7167:Ftl1	UTSW	7	45,459,778 (GRCm38)	unclassified	probably benign
R8389:Ftl1	UTSW	7	45,459,227 (GRCm38)	missense	probably benign	0.25
R9216:Ftl1	UTSW	7	45,459,535 (GRCm38)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- AAACGCACATGCTCGGTAGTG -3'
(R):5'- TTGTTCCATGCAGGGCAGAG -3'

Sequencing Primer
(F):5'- ATGCTCGGTAGTGCCCAATAC -3'
(R):5'- CTGCGCGCTGTGTACATAG -3'

Posted On

2018-05-24