Mutagenetix > Incidental Mutation

Incidental Mutation 'R9159:Firrm'

695546

Institutional Source

Beutler Lab

Gene Symbol

Firrm

Ensembl Gene

ENSMUSG00000041406

Gene Name

FIGNL1 interacting regulator of recombination and mitosis

Synonyms

BC055324

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163773562-163822365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163814514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 143 (I143T)

Ref Sequence

ENSEMBL: ENSMUSP00000095101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000160926]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045876
AA Change: I143T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: I143T

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: I143T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: I143T

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: ENSMUST00000160926

SMART Domains

Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC

Meta Mutation Damage Score

0.4234

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,394,238 (GRCm39)	M179K	probably benign	Het
A030003K21Rik	A	G	1: 82,920,787 (GRCm39)	V86A	unknown	Het
AC133488.1	A	T	16: 18,440,075 (GRCm39)	V363E	probably benign	Het
Adamts16	A	G	13: 70,901,408 (GRCm39)	S890P	probably benign	Het
Adgrf4	A	G	17: 42,973,293 (GRCm39)	V685A	probably benign	Het
Aff1	T	A	5: 103,990,131 (GRCm39)	M867K	possibly damaging	Het
Apba3	T	A	10: 81,106,867 (GRCm39)	S225T		Het
Aplp1	T	A	7: 30,141,775 (GRCm39)	T228S	probably benign	Het
Arhgap18	A	G	10: 26,730,886 (GRCm39)	D188G	probably benign	Het
BC024063	T	A	10: 81,944,906 (GRCm39)	S175R	possibly damaging	Het
Bloc1s6	T	G	2: 122,580,548 (GRCm39)	S2R	probably damaging	Het
Cd209b	A	G	8: 3,974,245 (GRCm39)	I119T	possibly damaging	Het
Cdk8	T	C	5: 146,168,549 (GRCm39)	V16A	probably damaging	Het
Cep295	A	G	9: 15,252,904 (GRCm39)	M308T	probably benign	Het
Cfap53	T	A	18: 74,416,272 (GRCm39)	Y2N	probably damaging	Het
Col28a1	T	A	6: 8,014,993 (GRCm39)	D804V	probably damaging	Het
Csta3	G	A	16: 36,038,069 (GRCm39)	V69I	probably benign	Het
Cyp2c40	A	T	19: 39,762,317 (GRCm39)	D443E	probably damaging	Het
Cyp2d9	A	G	15: 82,338,572 (GRCm39)	D202G	possibly damaging	Het
Dchs1	G	A	7: 105,415,126 (GRCm39)	A686V	probably benign	Het
Egf	A	T	3: 129,472,026 (GRCm39)	N1199K	probably benign	Het
Eva1a	A	G	6: 82,068,855 (GRCm39)	R61G	possibly damaging	Het
Exoc6	T	A	19: 37,597,478 (GRCm39)	D626E	probably benign	Het
Exosc10	T	C	4: 148,663,916 (GRCm39)		probably null	Het
Gm12888	T	C	4: 121,176,600 (GRCm39)	Q67R	probably null	Het
Gm16485	A	G	9: 8,972,319 (GRCm39)	S62G	unknown	Het
Gng4	T	C	13: 13,999,896 (GRCm39)	I55T	probably damaging	Het
Gpihbp1	A	G	15: 75,469,830 (GRCm39)	S182G	possibly damaging	Het
Hax1	T	C	3: 89,903,127 (GRCm39)	R251G	probably damaging	Het
Igf2bp2	G	A	16: 21,900,502 (GRCm39)	T213I	probably damaging	Het
Il23a	T	A	10: 128,133,427 (GRCm39)	K66*	probably null	Het
Itga2	A	T	13: 115,014,298 (GRCm39)	L210*	probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Matr3	T	A	18: 35,712,355 (GRCm39)	M389K	possibly damaging	Het
Mettl15	T	C	2: 108,923,444 (GRCm39)	D326G	probably damaging	Het
Mta1	T	A	12: 113,100,025 (GRCm39)	V645E	probably damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Naa15	T	A	3: 51,358,802 (GRCm39)	N362K	probably benign	Het
Necab2	T	C	8: 120,189,303 (GRCm39)	Y158H	probably damaging	Het
Nphp3	T	A	9: 103,897,980 (GRCm39)	L523Q	probably damaging	Het
Nphs1	T	G	7: 30,165,026 (GRCm39)	F540V	possibly damaging	Het
Or2av9	A	G	11: 58,381,350 (GRCm39)	V77A	probably damaging	Het
Or2k2	A	G	4: 58,785,320 (GRCm39)	I134T	probably benign	Het
Or5p55	A	T	7: 107,567,524 (GRCm39)	R307*	probably null	Het
Ppa1	A	T	10: 61,496,784 (GRCm39)	I91F	probably damaging	Het
Prdm6	C	A	18: 53,598,019 (GRCm39)	A127D	unknown	Het
Prdm8	T	C	5: 98,334,175 (GRCm39)	F581L	probably damaging	Het
Rbbp6	T	C	7: 122,589,428 (GRCm39)	I372T	probably damaging	Het
Rnf144b	A	G	13: 47,396,348 (GRCm39)	I228M	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,374,385 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,613,824 (GRCm39)	H441R	possibly damaging	Het
Shbg	G	A	11: 69,506,430 (GRCm39)	L327F	probably benign	Het
Sik3	C	T	9: 46,123,539 (GRCm39)	Q1113*	probably null	Het
Smad2	T	A	18: 76,395,573 (GRCm39)	I4N	possibly damaging	Het
Spata31h1	G	A	10: 82,118,524 (GRCm39)	R4829*	probably null	Het
Sult2b1	T	A	7: 45,391,534 (GRCm39)	E84V	probably damaging	Het
Tbc1d8	A	G	1: 39,444,474 (GRCm39)	Y162H		Het
Tedc2	A	G	17: 24,436,705 (GRCm39)	L308P	probably damaging	Het
Tmc5	T	C	7: 118,233,264 (GRCm39)	V26A	probably benign	Het
Tmem120b	T	A	5: 123,242,566 (GRCm39)	N181K	possibly damaging	Het
Tmem229b	T	G	12: 79,011,448 (GRCm39)	N161T	possibly damaging	Het
Tmem43	A	C	6: 91,459,291 (GRCm39)	D254A	probably benign	Het
Trpv6	T	C	6: 41,603,074 (GRCm39)	D266G	probably benign	Het
Tspan9	A	G	6: 127,943,717 (GRCm39)	I102T	possibly damaging	Het
Ung	A	G	5: 114,270,166 (GRCm39)		probably benign	Het
Upp2	C	T	2: 58,667,996 (GRCm39)	H230Y	probably damaging	Het
Vmn1r184	G	A	7: 25,966,545 (GRCm39)	S97N	possibly damaging	Het
Vmn2r73	A	T	7: 85,521,931 (GRCm39)	V136E	possibly damaging	Het
Wdr20rt	T	C	12: 65,272,918 (GRCm39)	V127A	probably damaging	Het
Yme1l1	T	A	2: 23,063,058 (GRCm39)	F210I	probably damaging	Het
Yrdc	T	C	4: 124,747,811 (GRCm39)		probably null	Het
Zfhx4	G	T	3: 5,464,312 (GRCm39)	R1515L	probably damaging	Het
Zfhx4	C	T	3: 5,466,217 (GRCm39)	P2150L	probably damaging	Het
Zfp267	C	A	3: 36,219,902 (GRCm39)	H642N	possibly damaging	Het
Zfp988	C	T	4: 147,416,450 (GRCm39)	P295S	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
R8755:Firrm	UTSW	1	163,786,895 (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
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'- GCTTCAATCTCCCAAGTCCAGC -3'
(R):5'- TAGTGCTGTGGGTCCAACAC -3'

Sequencing Primer
(F):5'- ATGCATGCCTGAGGTACCAC -3'
(R):5'- GGGTCCAACACTTAGAATGCTGTC -3'

Posted On

2022-01-20