Mutagenetix > Incidental Mutations

Incidental Mutation 'R6603:Ighv1-23'

525479

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-23

Ensembl Gene

ENSMUSG00000103290

Gene Name

immunoglobulin heavy variable V1-23

Synonyms

Ighv1-23, immunoglobulin heavy variable V1-23

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R6603 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

114764450-114764883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114764521 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Ref Sequence

ENSEMBL: ENSMUSP00000141293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194625]

Predicted Effect

probably damaging
Transcript: ENSMUST00000194625
AA Change: S94P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141293
Gene: ENSMUSG00000103290
AA Change: S94P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.5e-26	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 24,665,502	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,714,047	S755P	probably benign	Het
Aph1a	A	T	3: 95,895,496	N136I	probably damaging	Het
AU040320	T	A	4: 126,792,253	N207K	probably benign	Het
Caprin1	A	T	2: 103,775,511	D377E	probably benign	Het
Col18a1	A	G	10: 77,063,977		probably null	Het
Ddi2	T	C	4: 141,683,870	N577S	probably damaging	Het
Dip2c	T	A	13: 9,654,588		probably null	Het
Dmbt1	A	T	7: 131,046,510		probably null	Het
Fam13a	T	C	6: 58,987,189	K86R	probably benign	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Fam208a	A	G	14: 27,446,386	Y295C	probably damaging	Het
Fam71e2	G	A	7: 4,758,432	P427L	possibly damaging	Het
Fbxl8	A	T	8: 105,268,210	D118V	probably damaging	Het
Git2	C	A	5: 114,730,991		probably null	Het
Gm17190	T	G	13: 96,082,262	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,585,146	D333N	probably damaging	Het
Has2	T	A	15: 56,668,572	D249V	probably damaging	Het
Itpr2	A	G	6: 146,347,171	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,258,491	I44T	probably benign	Het
Kpna1	A	G	16: 36,029,520		probably null	Het
Lonrf1	T	A	8: 36,222,941	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,593,769		probably null	Het
Miip	T	G	4: 147,865,923	K72T	possibly damaging	Het
Mink1	C	T	11: 70,609,593	P782S	probably damaging	Het
Mpped2	A	G	2: 106,866,977	T266A	probably benign	Het
Naip1	G	A	13: 100,423,070	S1142F	probably benign	Het
Naip1	C	T	13: 100,423,158	G1113S	probably benign	Het
Nbr1	A	G	11: 101,556,105		probably benign	Het
Necab3	A	T	2: 154,554,922	N46K	probably damaging	Het
Olfr570	A	T	7: 102,900,414	I16F	probably benign	Het
Phtf1	C	T	3: 103,993,873	R360C	probably damaging	Het
Plcl2	A	G	17: 50,607,117	I385V	probably benign	Het
Prmt8	A	T	6: 127,729,413	F138L	probably benign	Het
Prpf40a	T	G	2: 53,152,963	R436S	probably damaging	Het
Rab27b	T	A	18: 69,985,304	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,910,257	E87G	probably damaging	Het
Scrib	T	A	15: 76,062,723	T674S	probably benign	Het
Slc9a4	A	G	1: 40,623,504	S644G	probably benign	Het
Slc9a9	G	A	9: 94,939,546	A329T	probably damaging	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Sox7	T	A	14: 63,948,188	H224Q	probably benign	Het
Spata31	T	C	13: 64,922,665	S876P	probably damaging	Het
Syndig1	G	A	2: 150,003,288	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,893,458	I150L	probably benign	Het
Tmem59l	G	A	8: 70,486,356	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,292,598	D222E	possibly damaging	Het
Trim52	T	C	14: 106,107,049	L47P	probably damaging	Het
Ttc34	T	A	4: 154,839,305	I157K	probably benign	Het
Txndc16	A	G	14: 45,151,767	F492S	probably damaging	Het
Ubr4	A	G	4: 139,455,586	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,138,360	I702F	probably damaging	Het
Wdr12	T	A	1: 60,082,624	H256L	probably damaging	Het
Xirp2	A	G	2: 67,516,544	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,571,034	Q500*	probably null	Het
Zfp583	T	C	7: 6,325,476	N38S	probably damaging	Het

Other mutations in Ighv1-23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3413:Ighv1-23	UTSW	12	114764467	missense	probably benign	0.10
R3414:Ighv1-23	UTSW	12	114764467	missense	probably benign	0.10
R4602:Ighv1-23	UTSW	12	114764559	missense	probably benign	0.27
R4911:Ighv1-23	UTSW	12	114764752	missense	possibly damaging	0.81
R5347:Ighv1-23	UTSW	12	114764756	critical splice acceptor site	probably benign
R7438:Ighv1-23	UTSW	12	114764475	missense	probably damaging	1.00
R7771:Ighv1-23	UTSW	12	114764736	missense	probably benign	0.25
R8328:Ighv1-23	UTSW	12	114764496	missense	probably damaging	1.00
Z1177:Ighv1-23	UTSW	12	114764685	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTTTACAAAGGTGACAAAGGCAC -3'
(R):5'- AAGCTGTCCTGCAAGGCTTC -3'

Sequencing Primer
(F):5'- GAACATTCAAAATGACCATTTCTGGG -3'
(R):5'- CGGGCTACACATTTACTGACTATG -3'

Posted On

2018-06-22