Mutagenetix > Incidental Mutation

Incidental Mutation 'R8786:Firrm'

670607

Institutional Source

Beutler Lab

Gene Symbol

Firrm

Ensembl Gene

ENSMUSG00000041406

Gene Name

FIGNL1 interacting regulator of recombination and mitosis

Synonyms

BC055324

MMRRC Submission

068632-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163773562-163822365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 163792040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 626 (L626Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000159617]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045876
AA Change: L626Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: L626Q

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: L626Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: L626Q

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: ENSMUST00000159617

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,592,784 (GRCm39)	M1K	probably null	Het
Atg2a	G	T	19: 6,294,460 (GRCm39)	V59L	probably damaging	Het
Atxn7	C	A	14: 14,103,316 (GRCm38)	T888K	possibly damaging	Het
Btbd9	T	C	17: 30,749,144 (GRCm39)	R57G	probably damaging	Het
Catspere2	T	A	1: 177,843,362 (GRCm39)		probably benign	Het
Catspere2	G	A	1: 177,843,555 (GRCm39)		probably benign	Het
Ccdc9b	C	A	2: 118,587,732 (GRCm39)	S534I	unknown	Het
Crp	T	C	1: 172,526,293 (GRCm39)	V126A	probably benign	Het
Csf1r	A	T	18: 61,247,942 (GRCm39)	T337S	probably damaging	Het
Dcaf12	T	C	4: 41,296,439 (GRCm39)	N299S	probably damaging	Het
Dcaf17	T	C	2: 70,917,744 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,665,830 (GRCm39)	D985G	probably damaging	Het
Dtna	A	G	18: 23,716,190 (GRCm39)	T138A	probably benign	Het
Emid1	T	C	11: 5,081,517 (GRCm39)	D212G	probably benign	Het
Epyc	G	A	10: 97,511,525 (GRCm39)	D173N	probably damaging	Het
Fanci	A	G	7: 79,052,298 (GRCm39)	D162G	probably benign	Het
Fry	T	C	5: 150,317,501 (GRCm39)	V827A	probably benign	Het
Ggps1	T	C	13: 14,228,505 (GRCm39)	E226G	probably benign	Het
Gopc	G	A	10: 52,230,750 (GRCm39)	R183*	probably null	Het
Grik4	C	T	9: 42,453,130 (GRCm39)	G752S	probably damaging	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
H2-Q1	T	A	17: 35,539,869 (GRCm39)	V46D	probably damaging	Het
Hsd17b3	T	C	13: 64,219,862 (GRCm39)	N126S	probably damaging	Het
Igsf10	G	A	3: 59,238,063 (GRCm39)	T706I	probably benign	Het
Kmt2e	A	G	5: 23,669,864 (GRCm39)	D117G	probably damaging	Het
Kmt5a	C	T	5: 124,584,074 (GRCm39)	A18V	probably benign	Het
Krtap29-1	C	T	11: 99,869,465 (GRCm39)	G139R	probably damaging	Het
Lama5	T	C	2: 179,838,100 (GRCm39)	Y872C	probably damaging	Het
Lrriq4	T	A	3: 30,704,752 (GRCm39)	M260K	probably benign	Het
Map2	G	A	1: 66,472,755 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,169,340 (GRCm39)	A8V	probably benign	Het
Ndufs3	T	C	2: 90,732,778 (GRCm39)	T103A	probably benign	Het
Numa1	T	G	7: 101,647,616 (GRCm39)	L449R	probably benign	Het
Or10g3b	C	T	14: 52,587,021 (GRCm39)	A161T	possibly damaging	Het
Pan3	C	T	5: 147,424,951 (GRCm39)	P295S	possibly damaging	Het
Pds5b	T	C	5: 150,704,134 (GRCm39)	S846P	probably damaging	Het
Phf2	A	T	13: 48,967,219 (GRCm39)	M712K	unknown	Het
Phlda2	A	T	7: 143,056,211 (GRCm39)	V6E	probably benign	Het
Pkdrej	C	A	15: 85,704,044 (GRCm39)	A631S	probably benign	Het
Plcd3	G	T	11: 102,962,569 (GRCm39)	N627K	probably damaging	Het
Prpf6	T	C	2: 181,262,415 (GRCm39)	I138T	possibly damaging	Het
Psd4	G	A	2: 24,295,444 (GRCm39)	S866N	probably benign	Het
Ptprb	A	C	10: 116,155,306 (GRCm39)	T400P	probably benign	Het
Rxfp1	T	C	3: 79,570,677 (GRCm39)		probably null	Het
Sbf2	A	G	7: 110,063,793 (GRCm39)		probably null	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Setd4	C	T	16: 93,390,162 (GRCm39)	R89Q	probably benign	Het
Sgpp1	A	G	12: 75,763,152 (GRCm39)	I343T	probably benign	Het
Sh2b2	T	C	5: 136,260,658 (GRCm39)	D186G	probably benign	Het
Slc12a4	A	T	8: 106,680,549 (GRCm39)	I191N	probably damaging	Het
Slc4a4	A	T	5: 89,232,549 (GRCm39)	D251V	probably benign	Het
Slc6a5	A	T	7: 49,561,843 (GRCm39)	D125V	possibly damaging	Het
Slf1	T	A	13: 77,274,806 (GRCm39)	I16F	possibly damaging	Het
Sncaip	T	C	18: 53,031,334 (GRCm39)	V521A	probably damaging	Het
Spmip10	T	C	18: 56,727,568 (GRCm39)	F89L	probably damaging	Het
Stx19	T	C	16: 62,642,775 (GRCm39)	L197P	probably damaging	Het
Sucla2	A	G	14: 73,797,905 (GRCm39)	N39D	probably benign	Het
Sult1d1	T	A	5: 87,712,575 (GRCm39)	T90S	probably benign	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tas2r138	A	G	6: 40,589,611 (GRCm39)	S212P	probably damaging	Het
Tdrd3	T	A	14: 87,709,637 (GRCm39)	C106*	probably null	Het
Tlk2	C	T	11: 105,172,059 (GRCm39)	A743V	unknown	Het
Tlr3	T	C	8: 45,851,286 (GRCm39)	D537G	possibly damaging	Het
Tmc1	A	G	19: 20,803,953 (GRCm39)	Y375H	probably damaging	Het
Tsen54	T	A	11: 115,711,498 (GRCm39)	M305K	probably damaging	Het
Umod	C	T	7: 119,076,581 (GRCm39)	V62M	possibly damaging	Het
Vmn1r10	A	G	6: 57,091,010 (GRCm39)	T201A	probably benign	Het
Vmn1r103	T	C	7: 20,243,676 (GRCm39)	T262A	probably benign	Het
Vmn2r100	T	C	17: 19,742,838 (GRCm39)	V404A	probably damaging	Het
Vmn2r56	A	G	7: 12,449,393 (GRCm39)	F282L	probably damaging	Het
Wdr64	A	T	1: 175,636,327 (GRCm39)	K982*	probably null	Het
Xpo6	A	T	7: 125,712,127 (GRCm39)		probably benign	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
R8755:Firrm	UTSW	1	163,786,895 (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'- TCATCCAGACAGATGCGAGC -3'
(R):5'- AGGACATCGTCTGTGTCTTG -3'

Sequencing Primer
(F):5'- TTTCCAAACATATCTTACCCAATCG -3'
(R):5'- GTTCAGTCATCCATTAGTCTGAAG -3'

Posted On

2021-04-30