Mutagenetix > Incidental Mutation

Incidental Mutation 'R8364:Ighv1-19'

646110

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-19

Ensembl Gene

ENSMUSG00000096410

Gene Name

immunoglobulin heavy variable V1-19

Synonyms

Gm16855

MMRRC Submission

067873-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R8364 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114672268-114672561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114672546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 25 (Q25K)

Ref Sequence

ENSEMBL: ENSMUSP00000141737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103505] [ENSMUST00000193855]

AlphaFold

A0A075B5U5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103505
AA Change: Q24K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100286
Gene: ENSMUSG00000096410
AA Change: Q24K

Domain	Start	End	E-Value	Type
IGv	35	116	8.41e-29	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193855
AA Change: Q25K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141737
Gene: ENSMUSG00000096410
AA Change: Q25K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.5e-31	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	A	1: 89,815,396 (GRCm39)	N761K	probably damaging	Het
Amotl1	G	A	9: 14,556,218 (GRCm39)	A36V	probably benign	Het
Apol7a	A	G	15: 77,273,820 (GRCm39)	V214A	possibly damaging	Het
Arhgef25	G	T	10: 127,025,632 (GRCm39)	Q3K	unknown	Het
Bpifc	A	T	10: 85,797,891 (GRCm39)	I456N	probably damaging	Het
Cers6	C	T	2: 68,692,083 (GRCm39)	A35V	possibly damaging	Het
Corin	T	A	5: 72,462,274 (GRCm39)	Y986F	probably benign	Het
Csmd3	A	T	15: 48,536,837 (GRCm39)	Y122N	probably damaging	Het
Ddit4l	T	A	3: 137,329,996 (GRCm39)	L18*	probably null	Het
Epb41l3	T	C	17: 69,573,429 (GRCm39)		probably null	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Greb1l	G	T	18: 10,529,687 (GRCm39)	V890L	possibly damaging	Het
Hivep3	A	T	4: 119,956,639 (GRCm39)	M1652L	probably benign	Het
Itprid2	T	C	2: 79,481,787 (GRCm39)	L489P	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Krr1	A	G	10: 111,813,104 (GRCm39)	R160G	probably damaging	Het
Lama3	A	G	18: 12,661,404 (GRCm39)	D515G	probably damaging	Het
Lars2	G	T	9: 123,241,019 (GRCm39)	G229*	probably null	Het
Lgalsl	T	A	11: 20,781,009 (GRCm39)	M1L	possibly damaging	Het
Lrtm2	T	A	6: 119,294,259 (GRCm39)	T291S	probably benign	Het
Morc2b	G	A	17: 33,357,214 (GRCm39)	T186I	probably benign	Het
Mup20	G	T	4: 61,969,768 (GRCm39)	S157R	probably damaging	Het
Nlgn1	A	G	3: 25,490,140 (GRCm39)	V529A	probably benign	Het
Nps	T	A	7: 134,870,543 (GRCm39)	W22R	probably benign	Het
Nradd	C	A	9: 110,450,536 (GRCm39)	V214L	probably damaging	Het
Ogfrl1	G	A	1: 23,414,824 (GRCm39)	Q228*	probably null	Het
Or10g9	T	C	9: 39,911,660 (GRCm39)	T288A	probably benign	Het
Or56a3b	T	A	7: 104,770,910 (GRCm39)	I82N	probably damaging	Het
Or5m11b	G	A	2: 85,806,358 (GRCm39)	C257Y	possibly damaging	Het
Ripor2	A	G	13: 24,894,176 (GRCm39)	T735A	possibly damaging	Het
Rnase6	C	A	14: 51,367,910 (GRCm39)	P101T	probably benign	Het
Slc34a2	A	T	5: 53,225,716 (GRCm39)	Y455F	possibly damaging	Het
Stxbp1	T	C	2: 32,696,774 (GRCm39)	M330V	possibly damaging	Het
Sypl2	T	C	3: 108,125,050 (GRCm39)	T104A	possibly damaging	Het
Tenm4	G	A	7: 96,421,313 (GRCm39)		probably null	Het
Tnfrsf11a	C	A	1: 105,745,412 (GRCm39)	T150K	probably damaging	Het
Tpsg1	T	C	17: 25,593,230 (GRCm39)	L311P	possibly damaging	Het
Ttc7b	T	C	12: 100,291,817 (GRCm39)	S766G	probably benign	Het
Vmn2r83	A	G	10: 79,316,037 (GRCm39)	T478A	probably benign	Het
Wdr1	G	A	5: 38,685,192 (GRCm39)	T593I	possibly damaging	Het
Zfp407	A	G	18: 84,570,993 (GRCm39)		probably null	Het
Zfp872	G	A	9: 22,111,540 (GRCm39)	G340R	probably damaging	Het

Other mutations in Ighv1-19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ighv1-19	APN	12	114,672,329 (GRCm39)	missense	probably benign	0.15
IGL00966:Ighv1-19	APN	12	114,672,569 (GRCm39)	missense	possibly damaging	0.51
IGL02545:Ighv1-19	APN	12	114,672,359 (GRCm39)	missense	probably damaging	1.00
R3729:Ighv1-19	UTSW	12	114,672,497 (GRCm39)	missense	probably damaging	1.00
R3730:Ighv1-19	UTSW	12	114,672,497 (GRCm39)	missense	probably damaging	1.00
R3731:Ighv1-19	UTSW	12	114,672,497 (GRCm39)	missense	probably damaging	1.00
R4093:Ighv1-19	UTSW	12	114,672,350 (GRCm39)	missense	probably damaging	1.00
R4969:Ighv1-19	UTSW	12	114,672,377 (GRCm39)	missense	probably benign	0.12
R5021:Ighv1-19	UTSW	12	114,672,686 (GRCm39)	missense	probably benign	0.00
R6448:Ighv1-19	UTSW	12	114,672,296 (GRCm39)	missense	probably damaging	1.00
R7335:Ighv1-19	UTSW	12	114,672,571 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTGTCAACAGTCAATGTGGC -3'
(R):5'- AATGTCCTCTCCACAGACACTG -3'

Sequencing Primer
(F):5'- AACAGTCAATGTGGCCTTGC -3'
(R):5'- TGAACACACTGACTCTAACCATGGG -3'

Posted On

2020-09-02