Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Gm5414'

556032

Institutional Source

Beutler Lab

Gene Symbol

Gm5414

Ensembl Gene

ENSMUSG00000064232

Gene Name

predicted gene 5414

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

PIT4504001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101624028-101628188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101625823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 282 (D282A)

Ref Sequence

ENSEMBL: ENSMUSP00000059101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062879]

AlphaFold

Q6IFZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062879
AA Change: D282A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: D282A

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	148	3.3e-29	PFAM
Filament	151	464	1.4e-143	SMART
low complexity region	489	507	N/A	INTRINSIC
low complexity region	511	549	N/A	INTRINSIC

Coding Region Coverage

1x: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192 (GRCm38)	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352 (GRCm38)	P1312S	probably damaging	Het
Arid5a	T	C	1: 36,317,625 (GRCm38)	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419 (GRCm38)	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499 (GRCm38)	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216 (GRCm38)	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009 (GRCm38)	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800 (GRCm38)	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011 (GRCm38)		probably null	Het
Ddx60	A	G	8: 61,958,113 (GRCm38)	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004 (GRCm38)	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883 (GRCm38)	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948 (GRCm38)	R586*	probably null	Het
Ermard	T	A	17: 15,058,822 (GRCm38)	C460*	probably null	Het
Fat2	C	T	11: 55,256,110 (GRCm38)	G4020D	possibly damaging	Het
Flacc1	T	A	1: 58,659,099 (GRCm38)	I348F	probably benign	Het
Galnt16	G	T	12: 80,592,417 (GRCm38)	E402*	probably null	Het
Gm6741	C	T	17: 91,236,916 (GRCm38)	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458 (GRCm38)	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875 (GRCm38)	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863 (GRCm38)	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881 (GRCm38)	D140E	probably benign	Het
Hjv	A	T	3: 96,528,497 (GRCm38)	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097 (GRCm38)	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469 (GRCm38)	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739 (GRCm38)	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935 (GRCm38)	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871 (GRCm38)	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027 (GRCm38)	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403 (GRCm38)	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537 (GRCm38)	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526 (GRCm38)	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087 (GRCm38)	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221 (GRCm38)	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879 (GRCm38)	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122 (GRCm38)	I574N	probably damaging	Het
Olfr175-ps1	T	A	16: 58,824,308 (GRCm38)	T134S	probably benign	Het
Or2n1b	A	G	17: 38,149,169 (GRCm38)	T194A	probably benign	Het
Osbpl11	T	A	16: 33,234,494 (GRCm38)	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130 (GRCm38)	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152 (GRCm38)	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390 (GRCm38)	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985 (GRCm38)	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460 (GRCm38)	I317L		Het
Scnn1g	C	A	7: 121,742,331 (GRCm38)	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110 (GRCm38)		probably null	Het
Tenm3	A	T	8: 48,293,657 (GRCm38)	F1038I	probably damaging	Het
Tshz2	T	C	2: 169,886,051 (GRCm38)	F856L	probably damaging	Het
Ubtf	A	G	11: 102,306,682 (GRCm38)	S715P	unknown	Het
Usp13	A	C	3: 32,905,430 (GRCm38)	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970 (GRCm38)	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976 (GRCm38)	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621 (GRCm38)	D32G	probably damaging	Het
Zfp512	T	A	5: 31,476,881 (GRCm38)		probably null	Het
Zfr	A	G	15: 12,166,158 (GRCm38)	E838G	possibly damaging	Het

Other mutations in Gm5414

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Gm5414	APN	15	101,628,134 (GRCm38)	missense	probably benign	0.00
IGL01774:Gm5414	APN	15	101,626,975 (GRCm38)	missense	probably benign	0.13
IGL01939:Gm5414	APN	15	101,625,670 (GRCm38)	splice site	probably benign
IGL02205:Gm5414	APN	15	101,625,869 (GRCm38)	missense	probably benign	0.44
IGL02411:Gm5414	APN	15	101,627,834 (GRCm38)	missense	probably benign	0.05
IGL02720:Gm5414	APN	15	101,625,555 (GRCm38)	missense	probably damaging	1.00
IGL02900:Gm5414	APN	15	101,627,807 (GRCm38)	missense	probably damaging	0.99
IGL03283:Gm5414	APN	15	101,627,087 (GRCm38)	missense	probably damaging	1.00
PIT4480001:Gm5414	UTSW	15	101,627,746 (GRCm38)	missense	probably damaging	1.00
R1905:Gm5414	UTSW	15	101,624,640 (GRCm38)	missense	probably damaging	1.00
R2070:Gm5414	UTSW	15	101,628,060 (GRCm38)	missense	possibly damaging	0.52
R3011:Gm5414	UTSW	15	101,625,612 (GRCm38)	missense	probably damaging	1.00
R3033:Gm5414	UTSW	15	101,624,609 (GRCm38)	missense	probably damaging	1.00
R4074:Gm5414	UTSW	15	101,625,553 (GRCm38)	missense	probably benign
R4257:Gm5414	UTSW	15	101,624,672 (GRCm38)	missense	probably damaging	1.00
R4396:Gm5414	UTSW	15	101,625,666 (GRCm38)	missense	probably damaging	1.00
R4648:Gm5414	UTSW	15	101,628,108 (GRCm38)	missense	possibly damaging	0.72
R4912:Gm5414	UTSW	15	101,625,010 (GRCm38)	missense	possibly damaging	0.46
R5095:Gm5414	UTSW	15	101,624,038 (GRCm38)	missense	probably benign	0.01
R5135:Gm5414	UTSW	15	101,627,768 (GRCm38)	missense	probably damaging	0.97
R5177:Gm5414	UTSW	15	101,625,817 (GRCm38)	missense	possibly damaging	0.91
R5330:Gm5414	UTSW	15	101,624,664 (GRCm38)	missense	probably damaging	1.00
R5331:Gm5414	UTSW	15	101,624,664 (GRCm38)	missense	probably damaging	1.00
R5432:Gm5414	UTSW	15	101,624,634 (GRCm38)	missense	probably damaging	1.00
R5521:Gm5414	UTSW	15	101,627,987 (GRCm38)	missense	probably benign	0.33
R5623:Gm5414	UTSW	15	101,625,811 (GRCm38)	missense	probably damaging	1.00
R6781:Gm5414	UTSW	15	101,625,661 (GRCm38)	missense	possibly damaging	0.91
R8298:Gm5414	UTSW	15	101,624,170 (GRCm38)	missense	unknown
R8912:Gm5414	UTSW	15	101,628,185 (GRCm38)	missense	possibly damaging	0.94
R9092:Gm5414	UTSW	15	101,627,910 (GRCm38)	missense	probably benign	0.01
R9721:Gm5414	UTSW	15	101,628,147 (GRCm38)	nonsense	probably null
RF001:Gm5414	UTSW	15	101,627,953 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAAGCTGTGGTTGTTGTCC -3'
(R):5'- CAGAAATGGCCTTGTATGTCTGGG -3'

Sequencing Primer
(F):5'- CCATGGAGATAATCACAGATGTGTC -3'
(R):5'- TGGGTCATTCCAGAGAAATGG -3'

Posted On

2019-06-07