Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Ighv1-9'

632495

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-9

Ensembl Gene

ENSMUSG00000094694

Gene Name

immunoglobulin heavy variable V1-9

Synonyms

Gm16697

MMRRC Submission

067568-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114547189-114547482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114547361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 60 (P60L)

Ref Sequence

ENSEMBL: ENSMUSP00000141381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103498] [ENSMUST00000193893]

AlphaFold

A0A075B5T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000103498
AA Change: P59L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100279
Gene: ENSMUSG00000094694
AA Change: P59L

Domain	Start	End	E-Value	Type
IGv	35	116	1.21e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000193893
AA Change: P60L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141381
Gene: ENSMUSG00000094694
AA Change: P60L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.9e-32	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,954 (GRCm39)	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,484,011 (GRCm39)		probably null	Het
Atp7b	C	A	8: 22,518,576 (GRCm39)	E87D	probably damaging	Het
Bcat2	C	T	7: 45,237,775 (GRCm39)	P347L	probably damaging	Het
Brox	A	T	1: 183,075,437 (GRCm39)		probably null	Het
Cd37	A	G	7: 44,887,959 (GRCm39)	I58T	probably damaging	Het
Cep295	A	T	9: 15,252,829 (GRCm39)	M333K	probably benign	Het
Chtop	A	G	3: 90,412,700 (GRCm39)		probably null	Het
Cpa2	A	T	6: 30,544,904 (GRCm39)	K54N	probably benign	Het
Cpa6	A	G	1: 10,395,519 (GRCm39)	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,540,748 (GRCm39)	I2542N	probably benign	Het
Eif5b	G	A	1: 38,090,357 (GRCm39)	V1179I	probably benign	Het
Erbin	T	C	13: 104,056,802 (GRCm39)		probably null	Het
Fastkd5	A	T	2: 130,457,170 (GRCm39)	D473E	possibly damaging	Het
Fchsd1	T	C	18: 38,097,395 (GRCm39)	E372G	probably damaging	Het
Fgl1	T	C	8: 41,653,646 (GRCm39)		probably null	Het
Fzd8	T	G	18: 9,213,797 (GRCm39)	V293G	probably damaging	Het
Gm4787	T	A	12: 81,424,925 (GRCm39)	H411L	probably benign	Het
Gm49380	G	T	9: 44,023,269 (GRCm39)	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,029,083 (GRCm39)	R240C	probably damaging	Het
Hdac5	A	T	11: 102,088,181 (GRCm39)	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,295,167 (GRCm39)	S301G	probably benign	Het
Htra4	A	T	8: 25,520,574 (GRCm39)	D362E	possibly damaging	Het
Kcnq3	A	G	15: 65,867,390 (GRCm39)	I751T	probably damaging	Het
Magi3	T	C	3: 103,941,402 (GRCm39)	Y851C	probably damaging	Het
Mefv	A	G	16: 3,531,499 (GRCm39)	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,843,091 (GRCm39)	V397I	probably benign	Het
Mroh1	C	A	15: 76,318,073 (GRCm39)	H867N	probably benign	Het
Mthfd1l	C	T	10: 3,957,745 (GRCm39)	R261*	probably null	Het
Myo3a	A	G	2: 22,412,157 (GRCm39)	I725M	probably damaging	Het
Neb	T	C	2: 52,099,552 (GRCm39)	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,270,156 (GRCm39)	P22Q	probably damaging	Het
Or4p18	T	C	2: 88,232,457 (GRCm39)	T274A	possibly damaging	Het
Or5k15	T	C	16: 58,709,948 (GRCm39)	T212A	probably benign	Het
Or9q2	A	T	19: 13,772,603 (GRCm39)	V124E	possibly damaging	Het
Peg10	C	G	6: 4,756,113 (GRCm39)	Q230E	unknown	Het
Pipox	T	C	11: 77,774,735 (GRCm39)	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,774,236 (GRCm39)	R993H	probably benign	Het
Pkdrej	A	C	15: 85,702,611 (GRCm39)	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,637,202 (GRCm39)	R291Q	probably benign	Het
Pomt1	T	A	2: 32,134,309 (GRCm39)	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,126,805 (GRCm39)	S78P	probably damaging	Het
Rgl1	A	T	1: 152,433,252 (GRCm39)	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,912,666 (GRCm39)	E14G	unknown	Het
Sh3rf3	T	A	10: 58,885,177 (GRCm39)	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,541,233 (GRCm39)	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,621,762 (GRCm39)	D274E	probably damaging	Het
Syne2	T	A	12: 75,959,127 (GRCm39)	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,544,383 (GRCm39)	D2170A	probably damaging	Het
Tnr	A	G	1: 159,691,265 (GRCm39)	T472A	probably damaging	Het
Tspan9	T	C	6: 127,942,241 (GRCm39)	H203R	probably damaging	Het
Ttn	T	C	2: 76,601,995 (GRCm39)	T18556A	possibly damaging	Het
Usp25	T	A	16: 76,868,569 (GRCm39)	Y323*	probably null	Het
Usp31	G	T	7: 121,248,249 (GRCm39)	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,058 (GRCm39)	T611S	probably damaging	Het
Wdfy4	A	G	14: 32,864,317 (GRCm39)	V552A		Het
Zap70	G	T	1: 36,810,262 (GRCm39)	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,281,957 (GRCm39)	S91T	possibly damaging	Het

Other mutations in Ighv1-9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0054:Ighv1-9	UTSW	12	114,547,602 (GRCm39)	missense	probably benign	0.00
R4426:Ighv1-9	UTSW	12	114,547,416 (GRCm39)	nonsense	probably null
R4593:Ighv1-9	UTSW	12	114,547,224 (GRCm39)	missense	probably benign	0.12
R5045:Ighv1-9	UTSW	12	114,547,440 (GRCm39)	missense	probably damaging	1.00
R5070:Ighv1-9	UTSW	12	114,547,377 (GRCm39)	missense	probably damaging	1.00
R6435:Ighv1-9	UTSW	12	114,547,206 (GRCm39)	missense	probably benign	0.18
R6941:Ighv1-9	UTSW	12	114,547,448 (GRCm39)	missense	probably benign
R8346:Ighv1-9	UTSW	12	114,547,448 (GRCm39)	missense	probably benign
R9209:Ighv1-9	UTSW	12	114,547,620 (GRCm39)	start codon destroyed	probably null	1.00
R9446:Ighv1-9	UTSW	12	114,547,388 (GRCm39)	missense	probably benign	0.06
Z1176:Ighv1-9	UTSW	12	114,547,454 (GRCm39)	missense	probably benign	0.44
Z1177:Ighv1-9	UTSW	12	114,547,319 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GTGTCTTGCACAGTAATAGATGGC -3'
(R):5'- TAACTGCAGGTAAGGGGCTC -3'

Sequencing Primer
(F):5'- AATAGATGGCAGAGTCCTCAGTTGTC -3'
(R):5'- CAGGTAAGGGGCTCACCATTTTC -3'

Posted On

2020-06-30