Mutagenetix > Incidental Mutation

Incidental Mutation 'R8846:Ighv1-53'

674715

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-53

Ensembl Gene

ENSMUSG00000093894

Gene Name

immunoglobulin heavy variable 1-53

Synonyms

AB069917, V23-D-J-C mu

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R8846 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115158403-115158835 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 115158545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 70 (I70S)

Ref Sequence

ENSEMBL: ENSMUSP00000100304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103523]

AlphaFold

A0A075B5W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000103523
AA Change: I70S

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

SMART Domains

Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: I70S

Domain	Start	End	E-Value	Type
IGv	36	117	3.52e-31	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,605,884	I1198F	possibly damaging	Het
Adgrv1	C	T	13: 81,488,906		probably null	Het
Adprh	T	C	16: 38,447,413	H170R	probably damaging	Het
Arhgef10	T	C	8: 14,975,956	V820A	probably benign	Het
B3galt1	A	G	2: 68,118,373	D144G	probably benign	Het
Ccdc88a	C	T	11: 29,464,185	R908C	probably damaging	Het
Ccs	A	G	19: 4,833,452	L106P	probably damaging	Het
Dock10	T	C	1: 80,568,069	D820G	possibly damaging	Het
Gda	A	G	19: 21,412,525	I298T	probably damaging	Het
Gm4858	A	T	3: 93,074,463	I189F	possibly damaging	Het
Gpr84	A	T	15: 103,309,610	H13Q	possibly damaging	Het
Igdcc4	T	C	9: 65,130,616	S760P	probably benign	Het
Itpr3	T	A	17: 27,112,022	I1768N	probably damaging	Het
Kctd13	C	A	7: 126,945,019	D296E	probably benign	Het
Krt76	A	G	15: 101,887,337	I466T	probably damaging	Het
Lamb1	T	C	12: 31,329,389	Y1801H	possibly damaging	Het
Mapk10	A	G	5: 102,996,655	F129L	probably damaging	Het
Myo5b	G	A	18: 74,707,972	E975K	probably benign	Het
Nrtn	C	T	17: 56,751,728	R91H	possibly damaging	Het
Olfml2a	A	T	2: 38,960,243	Y657F	probably damaging	Het
Olfr1426	T	C	19: 12,088,069	H241R	probably damaging	Het
Olfr50	T	A	2: 36,793,677	V147E	probably benign	Het
Pfkfb2	T	C	1: 130,697,911	T511A	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1l1	G	T	15: 44,546,962	G2622*	probably null	Het
Ppp6r3	A	T	19: 3,514,654	D206E	probably damaging	Het
Ptpn3	A	G	4: 57,205,020	Y714H	probably damaging	Het
Rfng	C	A	11: 120,784,146	R6L	unknown	Het
Scrt1	A	T	15: 76,521,608	V33E	possibly damaging	Het
Siglecg	A	T	7: 43,412,518	I563F	probably benign	Het
Slc1a6	G	A	10: 78,801,947	A436T	probably damaging	Het
Slc38a9	C	A	13: 112,723,280	S416*	probably null	Het
Sptbn1	A	G	11: 30,125,009	S1288P	possibly damaging	Het
Tbce	A	G	13: 14,019,700		probably null	Het
Topors	A	G	4: 40,262,952	F111L	probably damaging	Het
Vmn1r11	T	C	6: 57,137,822	M157T	probably benign	Het
Wdfy4	A	G	14: 33,145,148	L459P		Het
Zfp738	T	C	13: 67,670,036	N612S	probably benign	Het

Other mutations in Ighv1-53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01815:Ighv1-53	APN	12	115158597	missense	probably benign	0.01
IGL02326:Ighv1-53	APN	12	115158615	missense	probably benign	0.21
BB010:Ighv1-53	UTSW	12	115158409	nonsense	probably null
BB020:Ighv1-53	UTSW	12	115158409	nonsense	probably null
R3404:Ighv1-53	UTSW	12	115158438	missense	possibly damaging	0.81
R4020:Ighv1-53	UTSW	12	115158822	missense	probably benign	0.00
R4169:Ighv1-53	UTSW	12	115158546	missense	possibly damaging	0.63
R4241:Ighv1-53	UTSW	12	115158822	missense	probably benign	0.00
R5231:Ighv1-53	UTSW	12	115158605	missense	probably benign	0.09
R7139:Ighv1-53	UTSW	12	115158821	nonsense	probably null
R7220:Ighv1-53	UTSW	12	115158515	missense	probably benign	0.00
R7293:Ighv1-53	UTSW	12	115158821	nonsense	probably null
R7933:Ighv1-53	UTSW	12	115158409	nonsense	probably null
R7934:Ighv1-53	UTSW	12	115158616	nonsense	probably null
R9707:Ighv1-53	UTSW	12	115158415	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGTTTGCTACTCATCCAGG -3'
(R):5'- GGTGACAATGACATCCACTTTGC -3'

Sequencing Primer
(F):5'- CAGGGTTTCTGACACTCTCAGG -3'
(R):5'- GACAATGACATCCACTTTGCCTTTC -3'

Posted On

2021-07-15