Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01859:Fermt2'

178252

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fermt2

Ensembl Gene

ENSMUSG00000037712

Gene Name

fermitin family member 2

Synonyms

Mig2, Plekhc1, Kindlin-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01859

Quality Score

Status

Chromosome

Chromosomal Location

45696252-45767575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45697413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 646 (V646A)

Ref Sequence

ENSEMBL: ENSMUSP00000044554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045905]

AlphaFold

Q8CIB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045905
AA Change: V646A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: V646A

Domain	Start	End	E-Value	Type
Blast:B41	16	45	2e-9	BLAST
low complexity region	46	57	N/A	INTRINSIC
B41	93	573	5.09e-56	SMART
PH	373	478	2.7e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158144

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice are embryonic lethal at or before E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,963,336 (GRCm39)		probably benign	Het
Ak7	A	G	12: 105,711,556 (GRCm39)	M398V	probably null	Het
Angptl3	C	T	4: 98,925,669 (GRCm39)	R332*	probably null	Het
Ano7	A	G	1: 93,322,168 (GRCm39)	Y392C	probably damaging	Het
Arpc1b	T	C	5: 145,060,540 (GRCm39)	F18L	probably damaging	Het
Cdc23	G	T	18: 34,784,459 (GRCm39)	P73Q	probably benign	Het
Cdkl1	A	C	12: 69,806,903 (GRCm39)	L111R	probably damaging	Het
Cntnap2	A	G	6: 46,965,655 (GRCm39)	D822G	probably damaging	Het
Col6a5	G	A	9: 105,808,160 (GRCm39)	R963*	probably null	Het
Crocc	T	C	4: 140,756,601 (GRCm39)	D1008G	probably benign	Het
Dntt	G	T	19: 41,025,743 (GRCm39)	M120I	probably benign	Het
Dock1	A	G	7: 134,678,890 (GRCm39)	Y1003C	possibly damaging	Het
Fam178b	T	A	1: 36,698,446 (GRCm39)	R92W	probably damaging	Het
Foxc1	T	C	13: 31,992,706 (GRCm39)	S506P	unknown	Het
Gtpbp1	T	A	15: 79,603,341 (GRCm39)	V610E	probably benign	Het
H2-T15	A	T	17: 36,368,903 (GRCm39)	M59K	possibly damaging	Het
Hsdl2	T	C	4: 59,601,569 (GRCm39)		probably null	Het
Itgb8	T	A	12: 119,153,680 (GRCm39)	R278S	probably damaging	Het
Kcnh7	T	A	2: 62,552,132 (GRCm39)	D953V	probably benign	Het
Med13	A	T	11: 86,174,577 (GRCm39)	D1749E	possibly damaging	Het
Mocos	G	T	18: 24,799,717 (GRCm39)		probably benign	Het
Pcdhb20	T	G	18: 37,637,616 (GRCm39)	N47K	probably damaging	Het
Phf21a	T	A	2: 92,158,701 (GRCm39)	F227L	probably damaging	Het
Piezo2	T	C	18: 63,225,915 (GRCm39)	E907G	probably benign	Het
Pla2g4e	G	T	2: 120,013,214 (GRCm39)	Q369K	possibly damaging	Het
Ppp3cb	A	G	14: 20,559,517 (GRCm39)	I413T	probably damaging	Het
Ptgis	A	G	2: 167,056,726 (GRCm39)		probably null	Het
Rasgrp1	A	G	2: 117,119,899 (GRCm39)	V452A	probably benign	Het
Rbms3	T	A	9: 116,788,606 (GRCm39)	D105V	probably damaging	Het
Rnase1	C	A	14: 51,383,260 (GRCm39)	Q31H	probably benign	Het
Rnase13	G	T	14: 52,159,760 (GRCm39)	N126K	probably damaging	Het
Sema5b	G	T	16: 35,467,479 (GRCm39)	V248L	possibly damaging	Het
Serpinb12	G	A	1: 106,881,564 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,526,914 (GRCm39)	L738Q	probably damaging	Het
Spta1	A	T	1: 174,001,938 (GRCm39)	I23F	probably damaging	Het
Stk-ps2	A	T	1: 46,069,202 (GRCm39)		noncoding transcript	Het
Tcp1	A	G	17: 13,141,571 (GRCm39)	E350G	possibly damaging	Het
Tonsl	T	C	15: 76,518,980 (GRCm39)	K518E	probably damaging	Het
Trim34a	A	G	7: 103,910,149 (GRCm39)	E317G	probably damaging	Het
Trit1	A	G	4: 122,943,344 (GRCm39)	S335G	probably benign	Het
Usp28	G	T	9: 48,935,321 (GRCm39)	E91*	probably null	Het
Vmn2r56	A	G	7: 12,449,932 (GRCm39)	L102P	probably damaging	Het
Wwtr1	A	C	3: 57,384,938 (GRCm39)	L203R	possibly damaging	Het
Zfp110	T	C	7: 12,583,467 (GRCm39)	V705A	possibly damaging	Het
Zfp955a	T	C	17: 33,462,693 (GRCm39)	N67S	probably benign	Het

Other mutations in Fermt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Fermt2	APN	14	45,702,320 (GRCm39)	missense	probably damaging	1.00
IGL02719:Fermt2	APN	14	45,742,113 (GRCm39)	missense	probably damaging	1.00
IGL03182:Fermt2	APN	14	45,699,225 (GRCm39)	missense	possibly damaging	0.77
ANU18:Fermt2	UTSW	14	45,702,320 (GRCm39)	missense	probably damaging	1.00
R0107:Fermt2	UTSW	14	45,702,279 (GRCm39)	missense	probably damaging	0.98
R0671:Fermt2	UTSW	14	45,706,776 (GRCm39)	missense	probably benign	0.09
R1172:Fermt2	UTSW	14	45,697,425 (GRCm39)	missense	possibly damaging	0.91
R1227:Fermt2	UTSW	14	45,697,447 (GRCm39)	missense	probably benign	0.19
R1480:Fermt2	UTSW	14	45,699,244 (GRCm39)	missense	possibly damaging	0.88
R2219:Fermt2	UTSW	14	45,713,354 (GRCm39)	missense	probably benign
R2937:Fermt2	UTSW	14	45,741,948 (GRCm39)	splice site	probably null
R4765:Fermt2	UTSW	14	45,699,693 (GRCm39)	missense	probably benign	0.01
R5921:Fermt2	UTSW	14	45,702,203 (GRCm39)	missense	probably damaging	1.00
R6063:Fermt2	UTSW	14	45,697,338 (GRCm39)	missense	possibly damaging	0.77
R6216:Fermt2	UTSW	14	45,697,338 (GRCm39)	missense	possibly damaging	0.77
R6254:Fermt2	UTSW	14	45,713,516 (GRCm39)	missense	probably damaging	1.00
R6964:Fermt2	UTSW	14	45,702,599 (GRCm39)	missense	probably damaging	0.99
R7574:Fermt2	UTSW	14	45,706,782 (GRCm39)	missense	probably damaging	1.00
R7917:Fermt2	UTSW	14	45,699,318 (GRCm39)	missense	probably damaging	0.98
R8692:Fermt2	UTSW	14	45,742,099 (GRCm39)	nonsense	probably null
R8861:Fermt2	UTSW	14	45,697,466 (GRCm39)	missense	possibly damaging	0.94
R8910:Fermt2	UTSW	14	45,702,389 (GRCm39)	missense	probably damaging	1.00
R8986:Fermt2	UTSW	14	45,742,023 (GRCm39)	missense	probably benign

Posted On

2014-05-07