Mutagenetix > Incidental Mutation

Incidental Mutation 'R1584:BC005561'

177327

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

039621-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R1584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104518257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 215 (I215N)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096452]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096452
AA Change: I215N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: I215N

Domain	Start	End	E-Value	Type
Pfam:THOC2_N	10	424	3.5e-65	PFAM
Pfam:THOC2_N	415	566	5.8e-32	PFAM
Pfam:Thoc2	568	643	8.3e-40	PFAM
low complexity region	729	747	N/A	INTRINSIC
Pfam:Tho2	873	1173	1.1e-105	PFAM
low complexity region	1251	1262	N/A	INTRINSIC
low complexity region	1266	1283	N/A	INTRINSIC
coiled coil region	1310	1335	N/A	INTRINSIC
low complexity region	1355	1366	N/A	INTRINSIC
low complexity region	1459	1482	N/A	INTRINSIC
low complexity region	1524	1543	N/A	INTRINSIC
low complexity region	1561	1569	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

99% (106/107)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,515,410 (GRCm38)	A71V	probably damaging	Het
Ager	A	G	17: 34,600,718 (GRCm38)	E357G	probably damaging	Het
Akap13	T	C	7: 75,729,049 (GRCm38)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337 (GRCm38)		probably null	Het
Arrdc1	T	C	2: 24,925,795 (GRCm38)	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065 (GRCm38)	Y2250H	probably damaging	Het
Brca2	G	A	5: 150,552,258 (GRCm38)	A2478T	probably damaging	Het
Btrc	T	A	19: 45,513,382 (GRCm38)		probably benign	Het
C8g	C	T	2: 25,500,216 (GRCm38)	A6T	probably benign	Het
Cdc123	T	A	2: 5,803,977 (GRCm38)		probably null	Het
Cilp	G	A	9: 65,279,715 (GRCm38)	G1031S	probably damaging	Het
Cldn5	G	A	16: 18,777,477 (GRCm38)	G161D	probably damaging	Het
Cndp2	G	A	18: 84,677,315 (GRCm38)		probably benign	Het
Cntnap1	C	A	11: 101,180,360 (GRCm38)	F366L	probably damaging	Het
Corin	C	T	5: 72,302,790 (GRCm38)		probably null	Het
Ctdspl2	G	A	2: 122,003,929 (GRCm38)	R332K	probably benign	Het
Dido1	G	A	2: 180,662,328 (GRCm38)	P1261L	probably damaging	Het
Dopey1	A	T	9: 86,548,172 (GRCm38)	R2200*	probably null	Het
Dtx3l	G	A	16: 35,932,728 (GRCm38)	L503F	probably damaging	Het
Dysf	A	G	6: 84,067,047 (GRCm38)	K259R	probably benign	Het
Enpep	T	A	3: 129,319,448 (GRCm38)	T203S	probably damaging	Het
Epha2	T	A	4: 141,322,047 (GRCm38)		probably null	Het
Fam20b	T	C	1: 156,686,188 (GRCm38)		probably benign	Het
Fbln7	A	G	2: 128,877,429 (GRCm38)	T49A	probably benign	Het
Fgf14	T	A	14: 124,676,539 (GRCm38)	K60M	probably benign	Het
Fhad1	T	C	4: 141,985,511 (GRCm38)	I206V	probably benign	Het
Figla	A	G	6: 86,020,782 (GRCm38)	E164G	probably benign	Het
Gimap4	C	A	6: 48,691,282 (GRCm38)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm38)	T6I	probably damaging	Het
Gm6583	C	T	5: 112,354,764 (GRCm38)	G358D	probably benign	Het
Grk4	T	C	5: 34,694,750 (GRCm38)	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566 (GRCm38)	E220K	probably damaging	Het
Hecw1	A	G	13: 14,340,743 (GRCm38)		probably null	Het
Helz2	G	A	2: 181,236,297 (GRCm38)	P903S	probably damaging	Het
Hydin	T	C	8: 110,580,815 (GRCm38)	V3942A	probably benign	Het
Irs1	G	T	1: 82,289,444 (GRCm38)	H350Q	probably benign	Het
Kdm1b	G	A	13: 47,064,054 (GRCm38)	E46K	probably damaging	Het
Klf11	A	G	12: 24,655,305 (GRCm38)	N253D	probably damaging	Het
Klhl23	T	C	2: 69,833,888 (GRCm38)	I527T	probably damaging	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576 (GRCm38)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542 (GRCm38)		probably null	Het
Lilra6	T	A	7: 3,912,662 (GRCm38)	D358V	probably damaging	Het
Mmrn2	A	G	14: 34,375,685 (GRCm38)	D24G	probably benign	Het
Mpp5	A	G	12: 78,829,727 (GRCm38)	I482V	probably benign	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Mrps35	C	T	6: 147,055,984 (GRCm38)	T169M	probably damaging	Het
Muc4	G	A	16: 32,753,595 (GRCm38)	G1157D	probably benign	Het
Naga	T	A	15: 82,334,788 (GRCm38)	M237L	probably null	Het
Nfu1	G	A	6: 87,020,809 (GRCm38)	E225K	probably damaging	Het
Nin	A	T	12: 70,042,669 (GRCm38)	L1324Q	probably benign	Het
Oc90	T	A	15: 65,897,720 (GRCm38)	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995 (GRCm38)	F251I	probably damaging	Het
Olfr1253	C	T	2: 89,752,267 (GRCm38)	C187Y	probably damaging	Het
Olfr1471	T	C	19: 13,445,659 (GRCm38)	Y216H	probably damaging	Het
Olfr25	G	A	9: 38,330,131 (GRCm38)	M181I	possibly damaging	Het
Olfr522	A	G	7: 140,162,203 (GRCm38)	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494 (GRCm38)	C324S	possibly damaging	Het
Pdzrn4	T	C	15: 92,770,537 (GRCm38)	S857P	probably benign	Het
Plec	C	T	15: 76,185,908 (GRCm38)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481 (GRCm38)	V149D	probably benign	Het
Pm20d2	A	T	4: 33,174,772 (GRCm38)	N371K	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,684 (GRCm38)	Y480H	probably benign	Het
Prkd1	A	T	12: 50,425,515 (GRCm38)	V205E	probably damaging	Het
R3hdm2	A	G	10: 127,476,690 (GRCm38)	I434V	probably benign	Het
Rel	T	A	11: 23,745,546 (GRCm38)	T246S	probably damaging	Het
Rnf215	T	A	11: 4,136,719 (GRCm38)	V172E	probably damaging	Het
Scara3	T	C	14: 65,921,104 (GRCm38)	D485G	probably damaging	Het
Sec16a	A	T	2: 26,431,157 (GRCm38)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,932,060 (GRCm38)	D824E	possibly damaging	Het
Slc27a4	T	A	2: 29,811,190 (GRCm38)	V331E	probably damaging	Het
Srebf1	C	T	11: 60,200,702 (GRCm38)	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662 (GRCm38)	M1R	probably null	Het
Tapbp	C	T	17: 33,919,940 (GRCm38)		probably null	Het
Tep1	A	T	14: 50,866,037 (GRCm38)	N265K	probably damaging	Het
Tln2	T	A	9: 67,296,414 (GRCm38)	N470I	probably damaging	Het
Trim43a	G	T	9: 88,588,158 (GRCm38)	W339L	probably damaging	Het
Ttc22	T	C	4: 106,622,780 (GRCm38)	F77S	probably damaging	Het
Ttc8	A	G	12: 98,920,764 (GRCm38)	E32G	probably benign	Het
Uhmk1	A	T	1: 170,208,653 (GRCm38)		probably null	Het
Usp17lc	A	G	7: 103,418,941 (GRCm38)	H481R	possibly damaging	Het
Vamp8	G	A	6: 72,385,634 (GRCm38)	T35M	probably damaging	Het
Vill	A	G	9: 119,065,586 (GRCm38)	Y53C	probably damaging	Het
Vmn1r222	A	T	13: 23,232,762 (GRCm38)	S94T	probably damaging	Het
Vmn2r93	A	G	17: 18,305,151 (GRCm38)	Y357C	possibly damaging	Het
Vps13c	T	A	9: 67,893,112 (GRCm38)	V536D	possibly damaging	Het
Vrtn	G	A	12: 84,650,081 (GRCm38)	C535Y	probably damaging	Het
Vwa3a	A	G	7: 120,768,165 (GRCm38)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895 (GRCm38)	T140I	probably damaging	Het
Ykt6	T	A	11: 5,962,349 (GRCm38)	F101I	probably damaging	Het
Zfp277	C	T	12: 40,378,826 (GRCm38)	G174D	probably benign	Het
Zfp638	A	G	6: 83,978,065 (GRCm38)		probably null	Het
Zzef1	C	T	11: 72,924,679 (GRCm38)	P2942S	probably damaging	Het

Other mutations in BC005561

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:BC005561	APN	5	104,520,500 (GRCm38)	missense	probably damaging	1.00
IGL01024:BC005561	APN	5	104,521,746 (GRCm38)	missense	probably benign	0.02
IGL01133:BC005561	APN	5	104,517,662 (GRCm38)	missense	probably benign
IGL01564:BC005561	APN	5	104,520,663 (GRCm38)	missense	probably benign	0.12
IGL01727:BC005561	APN	5	104,519,513 (GRCm38)	missense	probably benign	0.01
IGL02086:BC005561	APN	5	104,519,001 (GRCm38)	missense	possibly damaging	0.49
IGL02153:BC005561	APN	5	104,521,083 (GRCm38)	missense	probably benign	0.02
IGL02256:BC005561	APN	5	104,520,283 (GRCm38)	nonsense	probably null
IGL02436:BC005561	APN	5	104,521,155 (GRCm38)	missense	probably benign	0.10
IGL02969:BC005561	APN	5	104,519,343 (GRCm38)	missense	probably benign	0.01
IGL03275:BC005561	APN	5	104,518,277 (GRCm38)	missense	probably benign	0.00
IGL03357:BC005561	APN	5	104,520,468 (GRCm38)	missense	probably damaging	1.00
Magnetar	UTSW	5	104,520,279 (GRCm38)	missense	probably damaging	0.99
F2404:BC005561	UTSW	5	104,520,230 (GRCm38)	missense	possibly damaging	0.83
R0318:BC005561	UTSW	5	104,517,753 (GRCm38)	missense	probably benign	0.00
R0349:BC005561	UTSW	5	104,519,976 (GRCm38)	missense	possibly damaging	0.85
R0454:BC005561	UTSW	5	104,518,211 (GRCm38)	missense	probably benign	0.45
R0742:BC005561	UTSW	5	104,522,154 (GRCm38)	missense	probably benign	0.00
R0842:BC005561	UTSW	5	104,519,200 (GRCm38)	missense	possibly damaging	0.81
R0882:BC005561	UTSW	5	104,519,009 (GRCm38)	missense	probably benign	0.05
R1123:BC005561	UTSW	5	104,518,470 (GRCm38)	missense	probably damaging	1.00
R1171:BC005561	UTSW	5	104,520,903 (GRCm38)	missense	possibly damaging	0.49
R1205:BC005561	UTSW	5	104,520,213 (GRCm38)	missense	probably benign	0.28
R1261:BC005561	UTSW	5	104,520,635 (GRCm38)	missense	probably damaging	0.98
R1432:BC005561	UTSW	5	104,518,104 (GRCm38)	missense	probably damaging	1.00
R1447:BC005561	UTSW	5	104,522,204 (GRCm38)	missense	possibly damaging	0.89
R1466:BC005561	UTSW	5	104,518,257 (GRCm38)	missense	probably damaging	0.99
R1466:BC005561	UTSW	5	104,518,257 (GRCm38)	missense	probably damaging	0.99
R1636:BC005561	UTSW	5	104,520,750 (GRCm38)	missense	probably damaging	0.99
R1686:BC005561	UTSW	5	104,519,923 (GRCm38)	nonsense	probably null
R1698:BC005561	UTSW	5	104,520,510 (GRCm38)	missense	probably benign	0.09
R1816:BC005561	UTSW	5	104,517,834 (GRCm38)	missense	probably benign	0.16
R1903:BC005561	UTSW	5	104,518,330 (GRCm38)	missense	probably benign	0.00
R2096:BC005561	UTSW	5	104,519,969 (GRCm38)	missense	possibly damaging	0.95
R2146:BC005561	UTSW	5	104,518,991 (GRCm38)	missense	probably benign
R2226:BC005561	UTSW	5	104,519,420 (GRCm38)	missense	probably damaging	1.00
R2227:BC005561	UTSW	5	104,519,420 (GRCm38)	missense	probably damaging	1.00
R2383:BC005561	UTSW	5	104,518,988 (GRCm38)	missense	probably benign	0.23
R2656:BC005561	UTSW	5	104,519,315 (GRCm38)	missense	probably benign	0.05
R3982:BC005561	UTSW	5	104,521,023 (GRCm38)	missense	probably benign	0.29
R3983:BC005561	UTSW	5	104,521,023 (GRCm38)	missense	probably benign	0.29
R4115:BC005561	UTSW	5	104,519,433 (GRCm38)	missense	probably damaging	1.00
R4345:BC005561	UTSW	5	104,521,449 (GRCm38)	missense	probably benign	0.21
R4697:BC005561	UTSW	5	104,522,240 (GRCm38)	missense	probably benign	0.00
R4711:BC005561	UTSW	5	104,519,661 (GRCm38)	missense	probably damaging	0.98
R4742:BC005561	UTSW	5	104,518,857 (GRCm38)	missense	probably benign	0.17
R4758:BC005561	UTSW	5	104,520,399 (GRCm38)	missense	possibly damaging	0.48
R4863:BC005561	UTSW	5	104,517,750 (GRCm38)	missense	possibly damaging	0.89
R4867:BC005561	UTSW	5	104,521,002 (GRCm38)	missense	possibly damaging	0.91
R5024:BC005561	UTSW	5	104,522,258 (GRCm38)	missense	possibly damaging	0.68
R5114:BC005561	UTSW	5	104,519,876 (GRCm38)	missense	probably damaging	0.99
R5117:BC005561	UTSW	5	104,520,255 (GRCm38)	missense	probably damaging	1.00
R5289:BC005561	UTSW	5	104,519,657 (GRCm38)	missense	probably benign	0.03
R5341:BC005561	UTSW	5	104,518,076 (GRCm38)	missense	probably damaging	1.00
R5420:BC005561	UTSW	5	104,518,359 (GRCm38)	missense	probably damaging	0.99
R5421:BC005561	UTSW	5	104,518,395 (GRCm38)	missense	probably benign	0.01
R5422:BC005561	UTSW	5	104,519,646 (GRCm38)	missense	probably damaging	0.98
R5606:BC005561	UTSW	5	104,521,878 (GRCm38)	missense	probably benign	0.00
R5939:BC005561	UTSW	5	104,519,207 (GRCm38)	missense	possibly damaging	0.56
R6104:BC005561	UTSW	5	104,518,218 (GRCm38)	missense	probably damaging	1.00
R6169:BC005561	UTSW	5	104,518,396 (GRCm38)	missense	probably benign	0.00
R6316:BC005561	UTSW	5	104,519,729 (GRCm38)	missense	probably damaging	1.00
R6352:BC005561	UTSW	5	104,520,198 (GRCm38)	missense	probably benign	0.11
R6408:BC005561	UTSW	5	104,518,777 (GRCm38)	missense	probably benign	0.19
R6458:BC005561	UTSW	5	104,522,303 (GRCm38)	missense	probably benign	0.02
R6722:BC005561	UTSW	5	104,520,279 (GRCm38)	missense	probably damaging	0.99
R6789:BC005561	UTSW	5	104,517,689 (GRCm38)	missense	probably benign	0.00
R7214:BC005561	UTSW	5	104,522,363 (GRCm38)	missense	probably benign
R7494:BC005561	UTSW	5	104,518,418 (GRCm38)	missense	possibly damaging	0.90
R7733:BC005561	UTSW	5	104,519,960 (GRCm38)	missense	possibly damaging	0.82
R7884:BC005561	UTSW	5	104,521,346 (GRCm38)	missense	possibly damaging	0.52
R7945:BC005561	UTSW	5	104,518,547 (GRCm38)	missense	possibly damaging	0.93
R8112:BC005561	UTSW	5	104,521,635 (GRCm38)	missense	probably benign
R8131:BC005561	UTSW	5	104,521,161 (GRCm38)	missense	possibly damaging	0.95
R8418:BC005561	UTSW	5	104,519,858 (GRCm38)	missense	possibly damaging	0.60
R8963:BC005561	UTSW	5	104,517,786 (GRCm38)	missense	probably benign	0.00
R9051:BC005561	UTSW	5	104,518,952 (GRCm38)	missense	probably benign	0.07
R9169:BC005561	UTSW	5	104,518,482 (GRCm38)	missense	probably damaging	1.00
R9250:BC005561	UTSW	5	104,519,454 (GRCm38)	missense	probably benign	0.00
R9358:BC005561	UTSW	5	104,519,960 (GRCm38)	missense	possibly damaging	0.82
R9451:BC005561	UTSW	5	104,520,778 (GRCm38)	missense	probably benign	0.07
R9452:BC005561	UTSW	5	104,521,744 (GRCm38)	missense	probably benign	0.00
R9567:BC005561	UTSW	5	104,521,778 (GRCm38)	missense	probably benign	0.00
R9760:BC005561	UTSW	5	104,519,235 (GRCm38)	missense	probably benign
Z1176:BC005561	UTSW	5	104,520,192 (GRCm38)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GCCTTATCAAACAATCGCAGCAGTTC -3'
(R):5'- CCGTTTGTATTCACTCACAATGCAGC -3'

Sequencing Primer
(F):5'- TCGCAGCAGTTCAATCAAAAATC -3'
(R):5'- GTATTCACTCACAATGCAGCTATCAG -3'

Posted On

2014-04-24