Mutagenetix > Incidental Mutation

Incidental Mutation 'R9598:Ighv1-12'

723409

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-12

Ensembl Gene

ENSMUSG00000095416

Gene Name

immunoglobulin heavy variable V1-12

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R9598 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114579470-114579763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114579757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 22 (Y22H)

Ref Sequence

ENSEMBL: ENSMUSP00000142024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103500] [ENSMUST00000109711] [ENSMUST00000191801] [ENSMUST00000195469]

AlphaFold

A0A075B5U0

Predicted Effect

probably benign
Transcript: ENSMUST00000103500
AA Change: Y3H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000100281
Gene: ENSMUSG00000095416
AA Change: Y3H

Domain	Start	End	E-Value	Type
IGv	17	98	5.55e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109711

SMART Domains

Protein: ENSMUSP00000105333
Gene: ENSMUSG00000095416

Domain	Start	End	E-Value	Type
IG_like	1	60	4.1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191801

SMART Domains

Protein: ENSMUSP00000141570
Gene: ENSMUSG00000102888

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.8e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195469
AA Change: Y22H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142024
Gene: ENSMUSG00000095416
AA Change: Y22H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.2e-31	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,604 (GRCm39)	I302V	probably benign	Het
Ackr2	A	C	9: 121,737,657 (GRCm39)	T11P	possibly damaging	Het
Ahnak	A	G	19: 8,981,149 (GRCm39)	N811S	probably benign	Het
Atm	T	C	9: 53,431,381 (GRCm39)	I326V	probably benign	Het
Ccn4	T	A	15: 66,784,764 (GRCm39)	C146S	possibly damaging	Het
Cdh23	A	T	10: 60,214,574 (GRCm39)	F1480L	probably benign	Het
Celsr2	T	C	3: 108,322,578 (GRCm39)	E78G	possibly damaging	Het
Ces1f	A	T	8: 93,983,494 (GRCm39)	N504K	probably benign	Het
Chrna4	G	A	2: 180,679,264 (GRCm39)	S61L	probably damaging	Het
Clcn3	G	T	8: 61,366,061 (GRCm39)	T864K	unknown	Het
Cym	A	C	3: 107,126,941 (GRCm39)	D71E	possibly damaging	Het
Ddx19b	T	C	8: 111,747,673 (GRCm39)	D87G	probably benign	Het
Dnah7b	T	C	1: 46,292,621 (GRCm39)	V3002A	possibly damaging	Het
Dnmt3a	G	A	12: 3,946,997 (GRCm39)	G408S	probably benign	Het
Dock10	A	T	1: 80,625,939 (GRCm39)	D66E	probably benign	Het
Dsg3	A	G	18: 20,672,789 (GRCm39)	D820G	probably damaging	Het
Dst	G	A	1: 34,153,014 (GRCm39)	V92I	possibly damaging	Het
Dusp16	T	A	6: 134,695,185 (GRCm39)	T549S	probably benign	Het
Ephx1	T	A	1: 180,827,381 (GRCm39)	K91*	probably null	Het
Flii	A	G	11: 60,617,991 (GRCm39)	F9L	probably benign	Het
Fmn2	T	C	1: 174,436,308 (GRCm39)	S760P	unknown	Het
Fmnl3	A	T	15: 99,223,210 (GRCm39)	V378E	probably damaging	Het
Gbp4	A	G	5: 105,284,740 (GRCm39)	S50P	probably damaging	Het
Glra3	G	T	8: 56,393,718 (GRCm39)		probably benign	Het
Gm10188	T	C	1: 132,157,033 (GRCm39)	D111G	unknown	Het
Gnptab	A	T	10: 88,247,876 (GRCm39)	E101V	probably damaging	Het
Hacl1	C	A	14: 31,332,197 (GRCm39)	M525I	probably benign	Het
Hid1	T	A	11: 115,239,738 (GRCm39)	T731S	probably damaging	Het
Ifi203	T	C	1: 173,751,522 (GRCm39)	Y847C	probably damaging	Het
Igfbpl1	C	A	4: 45,815,472 (GRCm39)	L221F	probably null	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
L3mbtl4	T	A	17: 68,866,767 (GRCm39)	H335Q	probably benign	Het
Mapre2	A	G	18: 24,016,707 (GRCm39)	D287G	probably benign	Het
Mfsd14b	G	A	13: 65,214,522 (GRCm39)	R477W	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Msh4	A	T	3: 153,607,148 (GRCm39)	S131T	possibly damaging	Het
Nat8f2	A	T	6: 85,844,848 (GRCm39)	D171E	probably benign	Het
Ndufb5	G	T	3: 32,795,881 (GRCm39)	L24F	probably benign	Het
Nkain2	T	C	10: 32,278,291 (GRCm39)	I45V	probably damaging	Het
Nlrp9b	T	G	7: 19,753,302 (GRCm39)	M69R	probably benign	Het
Or4k37	A	T	2: 111,159,633 (GRCm39)	R290*	probably null	Het
Or5d39	A	C	2: 87,979,935 (GRCm39)	C143G	probably damaging	Het
Or5d46	A	T	2: 88,170,821 (GRCm39)	K304I	possibly damaging	Het
Oxct2b	T	A	4: 123,010,413 (GRCm39)	V111E	possibly damaging	Het
Parva	T	A	7: 112,187,753 (GRCm39)	V350D	probably damaging	Het
Pcdhb7	A	G	18: 37,475,434 (GRCm39)	D190G	probably damaging	Het
Pik3c2b	T	C	1: 133,012,725 (GRCm39)		probably null	Het
Plcz1	T	A	6: 139,985,484 (GRCm39)	Q19L	possibly damaging	Het
Prag1	A	G	8: 36,571,069 (GRCm39)	N551D	probably benign	Het
Rb1cc1	G	A	1: 6,310,189 (GRCm39)	V196I	probably damaging	Het
Rnf113a2	T	C	12: 84,464,270 (GRCm39)	V54A	probably benign	Het
Sec14l1	G	A	11: 117,044,102 (GRCm39)	E537K	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Shtn1	T	A	19: 59,026,735 (GRCm39)	I119F	probably damaging	Het
Szt2	A	G	4: 118,266,358 (GRCm39)		probably null	Het
Tasp1	T	C	2: 139,819,567 (GRCm39)	D212G	probably benign	Het
Tmpo	A	G	10: 90,994,608 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,489,718 (GRCm39)	K403R	probably benign	Het
Vcpip1	A	G	1: 9,816,019 (GRCm39)	V788A	probably benign	Het
Wdr25	C	A	12: 108,864,613 (GRCm39)	H253N	probably benign	Het
Wwc2	G	A	8: 48,328,360 (GRCm39)	S367L	probably damaging	Het
Zfr	A	G	15: 12,162,292 (GRCm39)	E814G	probably damaging	Het

Other mutations in Ighv1-12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02699:Ighv1-12	APN	12	114,579,736 (GRCm39)	nonsense	probably null
R6169:Ighv1-12	UTSW	12	114,579,577 (GRCm39)	missense	possibly damaging	0.85
R8918:Ighv1-12	UTSW	12	114,579,553 (GRCm39)	missense	probably damaging	0.97
R9485:Ighv1-12	UTSW	12	114,579,525 (GRCm39)	missense	possibly damaging	0.93
Z1176:Ighv1-12	UTSW	12	114,579,633 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TACAGTCAGTGTGGCCTTGC -3'
(R):5'- ATGATCAGTGTCCTCTCCACAG -3'

Sequencing Primer
(F):5'- CCCTTGAACTTCTGATTGTAGGAAG -3'
(R):5'- GTCCCTGAAGACACTGACTC -3'

Posted On

2022-08-09