Mutagenetix > Incidental Mutation

Incidental Mutation 'R8755:Firrm'

664082

Institutional Source

Beutler Lab

Gene Symbol

Firrm

Ensembl Gene

ENSMUSG00000041406

Gene Name

FIGNL1 interacting regulator of recombination and mitosis

Synonyms

BC055324

MMRRC Submission

068596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163773562-163822365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163786895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 725 (S725P)

Ref Sequence

ENSEMBL: ENSMUSP00000095101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027876] [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000159516] [ENSMUST00000159617] [ENSMUST00000161908] [ENSMUST00000162234] [ENSMUST00000170359]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027876

SMART Domains

Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	245	1.9e-7	PFAM
low complexity region	525	541	N/A	INTRINSIC
low complexity region	711	731	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045876
AA Change: S725P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: S725P

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	2.3e-209	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097493
AA Change: S725P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: S725P

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	1.3e-186	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159516

Predicted Effect

probably benign
Transcript: ENSMUST00000159617

Predicted Effect

probably benign
Transcript: ENSMUST00000161908

SMART Domains

Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	274	1.5e-8	PFAM
low complexity region	512	528	N/A	INTRINSIC
low complexity region	698	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162234

Predicted Effect

probably benign
Transcript: ENSMUST00000170359

SMART Domains

Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	274	1.5e-8	PFAM
low complexity region	512	528	N/A	INTRINSIC
low complexity region	698	718	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,255,520 (GRCm39)	D86E	probably benign	Het
Akap3	A	G	6: 126,843,130 (GRCm39)	D583G	possibly damaging	Het
Alms1	T	A	6: 85,598,556 (GRCm39)	D1127E	probably benign	Het
Anks4b	T	A	7: 119,773,307 (GRCm39)		probably null	Het
Ano8	A	T	8: 71,935,724 (GRCm39)	F298Y	probably benign	Het
Arhgef2	C	A	3: 88,536,850 (GRCm39)	Q7K	probably benign	Het
Brd10	T	C	19: 29,693,890 (GRCm39)	I1868V	probably benign	Het
Cand2	T	C	6: 115,769,941 (GRCm39)	L917P	probably damaging	Het
Car8	T	C	4: 8,238,083 (GRCm39)	D44G	probably benign	Het
Cdk1	T	C	10: 69,176,435 (GRCm39)	N224S	probably benign	Het
Cep162	T	C	9: 87,114,064 (GRCm39)	E336G	probably benign	Het
Chd7	T	C	4: 8,866,069 (GRCm39)	M2792T	probably benign	Het
Cyp4f40	A	T	17: 32,886,957 (GRCm39)	K143*	probably null	Het
Cyth1	T	A	11: 118,074,768 (GRCm39)	M178L	probably benign	Het
Dcaf11	C	T	14: 55,798,023 (GRCm39)		probably benign	Het
Dlec1	T	G	9: 118,967,225 (GRCm39)	W1203G	probably damaging	Het
Fgd4	A	T	16: 16,302,133 (GRCm39)	S141T	probably benign	Het
Flg2	T	A	3: 93,108,120 (GRCm39)	D49E	probably damaging	Het
Fyb2	T	A	4: 104,861,086 (GRCm39)	D647E	unknown	Het
Gstp1	T	C	19: 4,086,698 (GRCm39)	Y109C	probably damaging	Het
Gtf3c3	T	C	1: 54,468,031 (GRCm39)	E202G	probably benign	Het
Hephl1	A	G	9: 14,985,563 (GRCm39)	F698L	probably benign	Het
Hephl1	G	T	9: 15,023,280 (GRCm39)	P41T	probably damaging	Het
Hmcn1	T	A	1: 150,509,371 (GRCm39)	E3659V	probably benign	Het
Il27ra	A	T	8: 84,765,988 (GRCm39)	D229E	probably damaging	Het
Itih2	T	A	2: 10,103,369 (GRCm39)	D706V	probably damaging	Het
Itpr2	A	T	6: 146,133,926 (GRCm39)	C1893S	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Laptm4b	A	G	15: 34,273,420 (GRCm39)	D111G	probably damaging	Het
Ldb3	T	A	14: 34,299,256 (GRCm39)	S123C	probably damaging	Het
Lgals12	C	T	19: 7,581,345 (GRCm39)	E121K	possibly damaging	Het
Mmp13	T	A	9: 7,277,996 (GRCm39)	S296R	possibly damaging	Het
Mpeg1	T	C	19: 12,439,238 (GRCm39)	F232S	probably damaging	Het
Ncapd2	A	T	6: 125,148,817 (GRCm39)	C990S	possibly damaging	Het
Nckap5	A	T	1: 125,954,279 (GRCm39)	C758S	possibly damaging	Het
Nwd1	A	T	8: 73,394,192 (GRCm39)	D485V	probably damaging	Het
Or13a21	T	G	7: 139,999,417 (GRCm39)	S90R	probably benign	Het
Or6c2	T	C	10: 129,362,332 (GRCm39)	F79L	possibly damaging	Het
Or8g50	T	A	9: 39,648,786 (GRCm39)	I225N	probably damaging	Het
Pcgf3	G	A	5: 108,634,108 (GRCm39)	R122Q	probably benign	Het
Pgm5	T	A	19: 24,812,212 (GRCm39)	I107F	probably damaging	Het
Pid1	G	T	1: 84,016,066 (GRCm39)	H114N	probably damaging	Het
Pkdrej	T	C	15: 85,703,807 (GRCm39)	T710A	probably benign	Het
Plpbp	T	A	8: 27,535,165 (GRCm39)		probably null	Het
Ppfibp2	T	G	7: 107,343,432 (GRCm39)	F824V	probably damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Psg17	T	A	7: 18,550,836 (GRCm39)	T340S	possibly damaging	Het
Pstpip2	T	C	18: 77,961,133 (GRCm39)	S239P	probably damaging	Het
Ralbp1	A	C	17: 66,166,036 (GRCm39)	S383A	possibly damaging	Het
Ranbp2	T	A	10: 58,300,969 (GRCm39)	L613*	probably null	Het
Rgs11	T	C	17: 26,422,346 (GRCm39)	V49A	probably damaging	Het
Ryr1	C	T	7: 28,791,693 (GRCm39)	V1404I	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Slc22a13	T	A	9: 119,038,126 (GRCm39)	M1L	probably damaging	Het
Slc5a1	A	T	5: 33,316,526 (GRCm39)	I591L	probably benign	Het
Tacr2	T	A	10: 62,088,733 (GRCm39)	V46E	possibly damaging	Het
Tet2	C	T	3: 133,194,039 (GRCm39)	G132S	probably damaging	Het
Thsd7a	G	A	6: 12,408,851 (GRCm39)	R724*	probably null	Het
Tmco3	A	T	8: 13,341,782 (GRCm39)	I19L	probably benign	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tpm1	A	T	9: 66,935,371 (GRCm39)	L248Q	probably benign	Het
Tprn	T	A	2: 25,154,027 (GRCm39)	I443N	probably benign	Het
Unc80	A	T	1: 66,651,290 (GRCm39)	H1545L	possibly damaging	Het
Vmn2r97	T	A	17: 19,168,104 (GRCm39)	M786K	probably damaging	Het
Wipi1	C	T	11: 109,494,645 (GRCm39)	V63M	probably damaging	Het
Zcchc4	G	A	5: 52,976,724 (GRCm39)	R506H	unknown	Het
Zfand6	A	T	7: 84,281,899 (GRCm39)	V110E	probably benign	Het
Zfp866	A	T	8: 70,219,381 (GRCm39)	Y80N	possibly damaging	Het

Other mutations in Firrm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:Firrm	APN	1	163,785,091 (GRCm39)	missense	probably benign	0.01
IGL02638:Firrm	APN	1	163,786,868 (GRCm39)	nonsense	probably null
IGL03337:Firrm	APN	1	163,818,328 (GRCm39)	missense	probably damaging	0.96
IGL03048:Firrm	UTSW	1	163,792,094 (GRCm39)	missense	probably benign	0.04
R0106:Firrm	UTSW	1	163,810,380 (GRCm39)	unclassified	probably benign
R0106:Firrm	UTSW	1	163,810,380 (GRCm39)	unclassified	probably benign
R0414:Firrm	UTSW	1	163,795,890 (GRCm39)	missense	probably benign	0.02
R0511:Firrm	UTSW	1	163,799,412 (GRCm39)	splice site	probably null
R1323:Firrm	UTSW	1	163,783,030 (GRCm39)	unclassified	probably benign
R1870:Firrm	UTSW	1	163,792,363 (GRCm39)	missense	probably damaging	1.00
R2129:Firrm	UTSW	1	163,794,026 (GRCm39)	missense	probably damaging	1.00
R3716:Firrm	UTSW	1	163,784,457 (GRCm39)	missense	probably damaging	1.00
R3783:Firrm	UTSW	1	163,815,252 (GRCm39)	missense	probably benign	0.27
R3872:Firrm	UTSW	1	163,814,533 (GRCm39)	missense	probably damaging	0.99
R4427:Firrm	UTSW	1	163,781,853 (GRCm39)	missense	probably benign
R5069:Firrm	UTSW	1	163,815,243 (GRCm39)	missense	possibly damaging	0.59
R5620:Firrm	UTSW	1	163,789,613 (GRCm39)	nonsense	probably null
R5681:Firrm	UTSW	1	163,789,654 (GRCm39)	missense	probably damaging	1.00
R5699:Firrm	UTSW	1	163,785,120 (GRCm39)	missense	probably benign	0.26
R5936:Firrm	UTSW	1	163,814,581 (GRCm39)	missense	probably benign	0.00
R6065:Firrm	UTSW	1	163,815,257 (GRCm39)	missense	probably damaging	1.00
R6065:Firrm	UTSW	1	163,786,957 (GRCm39)	missense	probably benign	0.08
R6075:Firrm	UTSW	1	163,805,656 (GRCm39)	missense	probably damaging	1.00
R6466:Firrm	UTSW	1	163,781,734 (GRCm39)	missense	probably benign	0.01
R6701:Firrm	UTSW	1	163,799,412 (GRCm39)	splice site	probably null
R6776:Firrm	UTSW	1	163,804,318 (GRCm39)	missense	probably damaging	1.00
R6851:Firrm	UTSW	1	163,792,336 (GRCm39)	missense	probably damaging	1.00
R6923:Firrm	UTSW	1	163,814,454 (GRCm39)	critical splice donor site	probably null
R7125:Firrm	UTSW	1	163,789,631 (GRCm39)	missense	probably benign	0.00
R7361:Firrm	UTSW	1	163,813,602 (GRCm39)	missense	possibly damaging	0.54
R7492:Firrm	UTSW	1	163,786,897 (GRCm39)	missense	probably benign	0.35
R8528:Firrm	UTSW	1	163,813,652 (GRCm39)	missense	probably damaging	1.00
R8786:Firrm	UTSW	1	163,792,040 (GRCm39)	missense	probably damaging	1.00
R8938:Firrm	UTSW	1	163,789,541 (GRCm39)	missense	probably benign	0.01
R8957:Firrm	UTSW	1	163,792,335 (GRCm39)	missense	probably damaging	1.00
R9023:Firrm	UTSW	1	163,818,300 (GRCm39)	missense	possibly damaging	0.83
R9132:Firrm	UTSW	1	163,814,514 (GRCm39)	missense	probably damaging	0.99
R9159:Firrm	UTSW	1	163,814,514 (GRCm39)	missense	probably damaging	0.99
R9229:Firrm	UTSW	1	163,794,659 (GRCm39)	missense	probably damaging	1.00
R9310:Firrm	UTSW	1	163,792,089 (GRCm39)	missense	probably damaging	1.00
R9455:Firrm	UTSW	1	163,781,721 (GRCm39)	missense	probably benign	0.05
R9463:Firrm	UTSW	1	163,795,907 (GRCm39)	missense	probably benign	0.00
R9597:Firrm	UTSW	1	163,804,340 (GRCm39)	missense	probably null	1.00
R9646:Firrm	UTSW	1	163,822,195 (GRCm39)	missense	probably damaging	0.97
Z1177:Firrm	UTSW	1	163,792,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGAAAGCTGTTTTCCCCAC -3'
(R):5'- ACTCTTGGCTTGGAGACCAG -3'

Sequencing Primer
(F):5'- TCACAGCACTGAAGGCTG -3'
(R):5'- CTTGGAGACCAGCTGTTGC -3'

Posted On

2021-03-08