Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Firrm'

501264

Institutional Source

Beutler Lab

Gene Symbol

Firrm

Ensembl Gene

ENSMUSG00000041406

Gene Name

FIGNL1 interacting regulator of recombination and mitosis

Synonyms

BC055324

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163773562-163822365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163789654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 627 (N627S)

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: N627S

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

SMART Domains

Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: N627S

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: N627S

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

SMART Domains

Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: N627S

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: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,559 (GRCm39)	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,140,067 (GRCm39)	V47E	probably damaging	Het
Amdhd2	A	G	17: 24,375,014 (GRCm39)	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,566,562 (GRCm39)	D1178N	probably benign	Het
Atp10d	T	C	5: 72,404,289 (GRCm39)		probably benign	Het
Baiap3	A	G	17: 25,468,347 (GRCm39)	S264P	probably damaging	Het
Brinp3	A	T	1: 146,777,484 (GRCm39)	I644F	probably benign	Het
Ccdc168	A	T	1: 44,100,624 (GRCm39)	V158D	possibly damaging	Het
Ccdc66	T	C	14: 27,208,698 (GRCm39)	R675G	probably benign	Het
Cnr2	T	G	4: 135,644,000 (GRCm39)	M26R	probably damaging	Het
Col6a2	A	T	10: 76,445,085 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,337,038 (GRCm39)	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,188 (GRCm39)	N117S	unknown	Het
Dnah12	T	C	14: 26,537,452 (GRCm39)	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,199,836 (GRCm39)	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,416,270 (GRCm39)	F724L	probably damaging	Het
Elapor2	T	A	5: 9,509,308 (GRCm39)		probably null	Het
Enoph1	T	C	5: 100,210,136 (GRCm39)		probably null	Het
Epha10	A	T	4: 124,796,359 (GRCm39)	Q356L	unknown	Het
Fbln2	G	T	6: 91,248,778 (GRCm39)	V1148L	probably damaging	Het
Gp2	C	T	7: 119,051,517 (GRCm39)	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,392,172 (GRCm39)	S800C	probably damaging	Het
Hat1	A	G	2: 71,264,553 (GRCm39)		probably null	Het
Hpdl	A	T	4: 116,678,039 (GRCm39)	S141T	probably benign	Het
Klhl29	A	G	12: 5,140,669 (GRCm39)	S658P	possibly damaging	Het
Lifr	T	A	15: 7,220,565 (GRCm39)	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,864,899 (GRCm39)		probably benign	Het
Marchf9	T	A	10: 126,894,172 (GRCm39)	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,540,974 (GRCm39)	I312V	possibly damaging	Het
Ngf	T	A	3: 102,427,669 (GRCm39)	F139L	probably damaging	Het
Nipbl	T	C	15: 8,330,866 (GRCm39)	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nphs1	A	G	7: 30,186,050 (GRCm39)	D1227G	probably benign	Het
Olfm3	C	A	3: 114,915,924 (GRCm39)	N285K	probably benign	Het
Or1j1	C	A	2: 36,702,693 (GRCm39)	S137I	probably benign	Het
Or4f60	T	A	2: 111,902,722 (GRCm39)	I69F	probably benign	Het
Or7g35	G	A	9: 19,496,195 (GRCm39)	D121N	probably damaging	Het
Or8b12i	A	G	9: 20,082,091 (GRCm39)	Y259H	probably damaging	Het
Or8b39	C	T	9: 37,996,927 (GRCm39)	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,813,486 (GRCm39)	S128P	probably benign	Het
Otop2	A	T	11: 115,217,685 (GRCm39)	M174L	probably damaging	Het
Pard3	A	G	8: 128,115,914 (GRCm39)	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,617,685 (GRCm39)	T967A	possibly damaging	Het
Pls1	A	G	9: 95,669,065 (GRCm39)	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,884,643 (GRCm39)	K64R	probably damaging	Het
Pxn	T	C	5: 115,682,593 (GRCm39)	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,206 (GRCm39)	D584G	probably damaging	Het
Safb	G	A	17: 56,906,000 (GRCm39)		probably benign	Het
Serinc2	A	C	4: 130,158,869 (GRCm39)	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,874,431 (GRCm39)	H52L	probably benign	Het
Serpinb9h	G	A	13: 33,579,812 (GRCm39)	C20Y	probably damaging	Het
Serpinf2	A	G	11: 75,326,765 (GRCm39)	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,356,660 (GRCm39)	S107T	probably benign	Het
Slc41a3	T	C	6: 90,617,928 (GRCm39)	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,686,854 (GRCm39)	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,067,055 (GRCm39)	G788D	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sox11	G	T	12: 27,391,823 (GRCm39)	D195E	probably benign	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Tab2	A	G	10: 7,795,837 (GRCm39)	I215T	probably damaging	Het
Ttn	C	T	2: 76,660,942 (GRCm39)	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,453,357 (GRCm39)		probably null	Het
Wdr17	T	C	8: 55,115,904 (GRCm39)	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,683,239 (GRCm39)	M445K	probably damaging	Het
Xpc	A	G	6: 91,481,102 (GRCm39)	F257L	probably 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
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
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'- GTGACTGACACTTTGGTAAGGTCTAC -3'
(R):5'- GACATCGTATGTACAGAGCCTAG -3'

Sequencing Primer
(F):5'- AGTCAGTAACTGCCTGATGC -3'
(R):5'- CGTATGTACAGAGCCTAGTAAAATTC -3'

Posted On

2017-12-01