Mutagenetix > Incidental Mutation

Incidental Mutation 'R7917:Fermt2'

648156

Institutional Source

Beutler Lab

Gene Symbol

Fermt2

Ensembl Gene

ENSMUSG00000037712

Gene Name

fermitin family member 2

Synonyms

Mig2, Plekhc1, Kindlin-2

MMRRC Submission

045965-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7917 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

45696252-45767575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 45699318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Threonine at position 592 (R592T)

Ref Sequence

ENSEMBL: ENSMUSP00000044554 (fasta)

Gene Model

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

AlphaFold

Q8CIB5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045905
AA Change: R592T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: R592T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (36/37)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,958,933 (GRCm39)	H730Q	probably damaging	Het
Adam20	A	G	8: 41,249,408 (GRCm39)	D506G	probably damaging	Het
Brinp1	A	G	4: 68,823,190 (GRCm39)	M1T	probably null	Het
Ccnc	T	A	4: 21,748,158 (GRCm39)	N273K	possibly damaging	Het
Cfdp1	C	A	8: 112,567,033 (GRCm39)	V159L	possibly damaging	Het
Cyb5r1	T	A	1: 134,334,638 (GRCm39)		probably benign	Het
Dsp	C	T	13: 38,351,615 (GRCm39)	Q145*	probably null	Het
Exosc9	G	A	3: 36,607,968 (GRCm39)	V59I	probably damaging	Het
Fryl	A	G	5: 73,211,875 (GRCm39)	S2381P	probably damaging	Het
Fscn2	G	A	11: 120,258,082 (GRCm39)	E335K	possibly damaging	Het
Hapln1	T	C	13: 89,755,997 (GRCm39)	I267T	probably benign	Het
Hdac9	T	A	12: 34,483,209 (GRCm39)	I93L	probably benign	Het
Igfn1	T	C	1: 135,899,706 (GRCm39)	D535G	probably damaging	Het
Ighv1-4	A	T	12: 114,451,165 (GRCm39)	F9I	possibly damaging	Het
Il3ra	T	A	14: 14,350,773 (GRCm38)	H262Q	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Mtg1	A	T	7: 139,727,178 (GRCm39)	D227V	probably damaging	Het
Nrcam	T	G	12: 44,620,546 (GRCm39)		probably null	Het
Or13g1	T	C	7: 85,955,686 (GRCm39)	T212A	probably damaging	Het
Or4f57	A	C	2: 111,791,310 (GRCm39)	V36G	probably damaging	Het
Or8b1	T	A	9: 38,399,905 (GRCm39)	Y193*	probably null	Het
Pcdha1	T	A	18: 37,065,254 (GRCm39)	D639E	possibly damaging	Het
Pcdhga8	T	A	18: 37,860,669 (GRCm39)	V575E	possibly damaging	Het
Pcif1	G	T	2: 164,730,392 (GRCm39)	R375L	probably benign	Het
Pcna	A	T	2: 132,094,929 (GRCm39)	S10T	probably benign	Het
Pdzd8	A	G	19: 59,333,518 (GRCm39)	S168P	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,885,650 (GRCm39)	D1842E	probably benign	Het
Rag2	A	T	2: 101,460,040 (GRCm39)	N117Y	probably damaging	Het
Scnn1g	T	C	7: 121,342,916 (GRCm39)	Y290H	probably damaging	Het
Sri	T	C	5: 8,113,409 (GRCm39)		probably null	Het
Tek	T	C	4: 94,708,372 (GRCm39)	V361A	possibly damaging	Het
Terf1	T	A	1: 15,889,300 (GRCm39)	L243Q	probably damaging	Het
Thrap3	G	A	4: 126,069,213 (GRCm39)	T646I	probably damaging	Het
Uba1y	A	G	Y: 821,274 (GRCm39)	I86V	probably benign	Het
Vmn2r29	A	G	7: 7,234,727 (GRCm39)	S720P	probably damaging	Het
Zeb2	T	C	2: 44,886,421 (GRCm39)	N879D	possibly damaging	Het
Zfp266	T	C	9: 20,416,423 (GRCm39)	T56A	probably benign	Het
Zxdc	T	A	6: 90,358,991 (GRCm39)	I541N	probably damaging	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
IGL01859:Fermt2	APN	14	45,697,413 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- CTTAGTCCTGGGGATCAAACC -3'
(R):5'- CTTCATTGCGAGGTCAGTGC -3'

Sequencing Primer
(F):5'- GGATCAAACCCAGACCCTG -3'
(R):5'- GGGCTGCTTAGACTACACTAAC -3'

Posted On

2020-09-15