Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Fer1l5'

608152

Institutional Source

Beutler Lab

Gene Symbol

Fer1l5

Ensembl Gene

ENSMUSG00000037432

Gene Name

fer-1 like family member 5

Synonyms

4930533C12Rik

MMRRC Submission

045924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36411372-36461191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36460967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 2032 (F2032L)

Ref Sequence

ENSEMBL: ENSMUSP00000142130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001171] [ENSMUST00000115011] [ENSMUST00000125304] [ENSMUST00000140452] [ENSMUST00000179162]

AlphaFold

P0DM40

Predicted Effect

probably benign
Transcript: ENSMUST00000001171

SMART Domains

Protein: ENSMUSP00000137028
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Lectin_leg-like	48	146	1.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115011

SMART Domains

Protein: ENSMUSP00000110663
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Lectin_leg-like	48	286	2e-84	PFAM
transmembrane domain	324	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125304

SMART Domains

Protein: ENSMUSP00000117200
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Lectin_leg-like	48	275	3.2e-88	PFAM
transmembrane domain	313	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140452

SMART Domains

Protein: ENSMUSP00000144430
Gene: ENSMUSG00000037432

Domain	Start	End	E-Value	Type
Pfam:C2	1	78	1.4e-5	PFAM
Blast:C2	148	209	3e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000152088

SMART Domains

Protein: ENSMUSP00000119798
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
Pfam:Lectin_leg-like	1	76	1.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179162
AA Change: F2032L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432
AA Change: F2032L

Domain	Start	End	E-Value	Type
C2	1	98	2.74e-4	SMART
C2	168	264	4.29e-6	SMART
FerI	250	323	1.59e-19	SMART
C2	325	422	1.06e-5	SMART
FerA	602	669	6.26e-18	SMART
FerB	691	764	1.38e-37	SMART
internal_repeat_1	781	836	1.77e-5	PROSPERO
internal_repeat_1	852	904	1.77e-5	PROSPERO
DysFC	913	951	1.61e-3	SMART
DysFC	981	1013	4.81e-2	SMART
C2	1078	1222	1.56e0	SMART
Pfam:C2	1248	1329	1e-1	PFAM
low complexity region	1376	1387	N/A	INTRINSIC
low complexity region	1459	1470	N/A	INTRINSIC
C2	1487	1586	2.21e-8	SMART
C2	1659	1851	5.32e-2	SMART
transmembrane domain	1964	1986	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192969

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,839 (GRCm39)	D290N	probably damaging	Het
Adam18	T	C	8: 25,101,116 (GRCm39)	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,989 (GRCm39)	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,572,807 (GRCm39)	K305I	probably damaging	Het
Atrn	T	A	2: 130,812,147 (GRCm39)		probably null	Het
Bambi	A	T	18: 3,511,406 (GRCm39)	T76S	probably benign	Het
Cacna1a	T	A	8: 85,310,283 (GRCm39)	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Clcn2	A	G	16: 20,527,210 (GRCm39)	M629T	probably damaging	Het
Clcn4	T	C	7: 7,290,780 (GRCm39)	N673S	probably benign	Het
Col20a1	T	C	2: 180,628,371 (GRCm39)	F15S	probably benign	Het
Col2a1	G	A	15: 97,898,458 (GRCm39)	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332 (GRCm39)	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,830 (GRCm39)	D556A	probably damaging	Het
Edar	C	T	10: 58,446,348 (GRCm39)	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,320,209 (GRCm39)	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699 (GRCm39)	V471I	not run	Het
Gm5150	A	C	3: 16,060,485 (GRCm39)	M1R	probably null	Het
Grin1	T	C	2: 25,188,202 (GRCm39)	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,681,913 (GRCm39)		probably benign	Het
Il18bp	A	G	7: 101,666,002 (GRCm39)	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062 (GRCm39)	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,916,275 (GRCm39)	Y74H	probably damaging	Het
Kpna1	T	C	16: 35,843,565 (GRCm39)	V313A	probably benign	Het
Lrp4	C	T	2: 91,321,061 (GRCm39)	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,059,099 (GRCm39)	C3S	probably damaging	Het
Lyst	C	A	13: 13,810,450 (GRCm39)	H707N	probably benign	Het
Map3k20	A	G	2: 72,202,098 (GRCm39)	K148R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mocs1	T	A	17: 49,746,561 (GRCm39)	I177N	probably damaging	Het
Muc5b	A	G	7: 141,399,850 (GRCm39)	D441G	unknown	Het
Ncoa1	T	C	12: 4,328,186 (GRCm39)	N884S	probably benign	Het
Or12j4	A	G	7: 140,046,696 (GRCm39)	N194S	probably damaging	Het
Or51a39	A	G	7: 102,363,389 (GRCm39)	V77A	probably benign	Het
Padi6	A	T	4: 140,455,073 (GRCm39)	F621L	probably damaging	Het
Pde8b	C	A	13: 95,223,347 (GRCm39)	M197I	possibly damaging	Het
Pear1	T	A	3: 87,659,522 (GRCm39)	I771L	probably benign	Het
Poli	A	G	18: 70,655,891 (GRCm39)	L281P	probably damaging	Het
Prdm12	T	C	2: 31,530,231 (GRCm39)	W41R	probably damaging	Het
Prkdc	T	G	16: 15,532,870 (GRCm39)	S1500A	probably benign	Het
Prune2	T	A	19: 17,096,798 (GRCm39)	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,382,403 (GRCm39)	Q196*	probably null	Het
Rnpc3	A	T	3: 113,416,096 (GRCm39)	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724 (GRCm38)	M1V	probably null	Het
Ryr2	T	A	13: 11,610,610 (GRCm39)	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,102,765 (GRCm39)	H314R	probably damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc37a3	A	T	6: 39,324,244 (GRCm39)	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,536,837 (GRCm39)	H9Q	probably benign	Het
Tnrc6a	T	A	7: 122,779,057 (GRCm39)	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,910 (GRCm39)	N126S	probably damaging	Het
Tut4	T	G	4: 108,374,715 (GRCm39)	C933G	probably damaging	Het
Ubr4	T	C	4: 139,120,373 (GRCm39)	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,217,550 (GRCm39)	V424A	possibly damaging	Het
Utrn	T	C	10: 12,573,873 (GRCm39)	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,740,404 (GRCm39)	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,223,613 (GRCm39)	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 19,835,839 (GRCm39)	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,369,219 (GRCm39)	H118L	probably benign	Het
Zfp775	A	G	6: 48,597,404 (GRCm39)	K426R	probably benign	Het

Other mutations in Fer1l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4151001:Fer1l5	UTSW	1	36,450,728 (GRCm39)	missense	probably benign	0.27
R5580:Fer1l5	UTSW	1	36,424,539 (GRCm39)	nonsense	probably null
R5848:Fer1l5	UTSW	1	36,428,016 (GRCm39)	missense	probably benign	0.39
R5930:Fer1l5	UTSW	1	36,424,254 (GRCm39)	nonsense	probably null
R6193:Fer1l5	UTSW	1	36,448,517 (GRCm39)	missense	probably benign	0.20
R6195:Fer1l5	UTSW	1	36,414,367 (GRCm39)	splice site	probably null
R6207:Fer1l5	UTSW	1	36,424,241 (GRCm39)	missense	probably damaging	1.00
R6233:Fer1l5	UTSW	1	36,414,367 (GRCm39)	splice site	probably null
R6349:Fer1l5	UTSW	1	36,450,355 (GRCm39)	missense	probably damaging	0.96
R6478:Fer1l5	UTSW	1	36,441,612 (GRCm39)	missense	probably damaging	1.00
R6514:Fer1l5	UTSW	1	36,442,697 (GRCm39)	missense	probably benign	0.01
R6611:Fer1l5	UTSW	1	36,445,735 (GRCm39)	missense	probably benign	0.01
R6634:Fer1l5	UTSW	1	36,450,466 (GRCm39)	missense	probably damaging	0.99
R6733:Fer1l5	UTSW	1	36,447,753 (GRCm39)	critical splice donor site	probably null
R6816:Fer1l5	UTSW	1	36,445,591 (GRCm39)	missense	possibly damaging	0.60
R7225:Fer1l5	UTSW	1	36,460,033 (GRCm39)	missense	possibly damaging	0.90
R7316:Fer1l5	UTSW	1	36,457,197 (GRCm39)	missense	probably benign	0.41
R7455:Fer1l5	UTSW	1	36,428,064 (GRCm39)	missense	probably benign	0.00
R7473:Fer1l5	UTSW	1	36,460,689 (GRCm39)	missense	possibly damaging	0.53
R7702:Fer1l5	UTSW	1	36,459,775 (GRCm39)	nonsense	probably null
R7714:Fer1l5	UTSW	1	36,440,558 (GRCm39)	missense	probably damaging	1.00
R7881:Fer1l5	UTSW	1	36,446,117 (GRCm39)	missense	not run
R7984:Fer1l5	UTSW	1	36,447,702 (GRCm39)	missense	possibly damaging	0.68
R8326:Fer1l5	UTSW	1	36,415,841 (GRCm39)	missense	probably benign	0.04
R8523:Fer1l5	UTSW	1	36,426,271 (GRCm39)	missense	probably benign	0.27
R8528:Fer1l5	UTSW	1	36,456,855 (GRCm39)	missense	possibly damaging	0.91
R8975:Fer1l5	UTSW	1	36,456,897 (GRCm39)	missense	probably benign	0.13
R9011:Fer1l5	UTSW	1	36,441,601 (GRCm39)	missense	probably damaging	0.96
R9084:Fer1l5	UTSW	1	36,429,619 (GRCm39)	missense	probably benign	0.00
R9140:Fer1l5	UTSW	1	36,460,047 (GRCm39)	intron	probably benign
R9180:Fer1l5	UTSW	1	36,449,999 (GRCm39)	missense	probably null	1.00
R9312:Fer1l5	UTSW	1	36,460,248 (GRCm39)	missense	probably damaging	1.00
R9510:Fer1l5	UTSW	1	36,442,662 (GRCm39)	missense	probably damaging	0.97
R9655:Fer1l5	UTSW	1	36,460,696 (GRCm39)	missense	probably benign	0.40
Z1176:Fer1l5	UTSW	1	36,429,644 (GRCm39)	nonsense	probably null
Z1177:Fer1l5	UTSW	1	36,448,275 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGGCCACTCTTGCATTAGC -3'
(R):5'- GAAAATTACAGCTCTGCTCTTCTTG -3'

Sequencing Primer
(F):5'- CTCTCAGAGCACATTTAAGTTGC -3'
(R):5'- CTTGTCAGAAGTGATCTCTAAACATG -3'

Posted On

2019-12-20