Mutagenetix > Incidental Mutation

Incidental Mutation 'R7529:Ighv5-9-1'

583216

Institutional Source

Beutler Lab

Gene Symbol

Ighv5-9-1

Ensembl Gene

ENSMUSG00000095210

Gene Name

immunoglobulin heavy variable 5-9-1

Synonyms

Gm16886

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113736111-113736630 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113736334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 53 (S53P)

Ref Sequence

ENSEMBL: ENSMUSP00000141243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103452] [ENSMUST00000192264]

AlphaFold

A0A075B5Q6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103452
AA Change: S43P

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210
AA Change: S43P

Domain	Start	End	E-Value	Type
IGv	35	116	8.34e-33	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192264
AA Change: S53P

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

SMART Domains

Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: S53P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGv	45	126	3.3e-35	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 128,237,164	K86*	probably null	Het
Ablim3	A	C	18: 61,821,968	S317A	probably benign	Het
Adcy1	T	C	11: 7,139,157	S524P	probably damaging	Het
Agps	C	A	2: 75,832,352	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,954,022	R250S	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atoh8	G	T	6: 72,223,841	D288E	probably benign	Het
B3galt2	A	C	1: 143,646,536	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,270,766	V343I	probably benign	Het
Cage1	T	C	13: 38,025,755	N82S	possibly damaging	Het
Cep350	A	G	1: 155,861,923	S2725P	probably benign	Het
Cfap65	T	C	1: 74,926,610	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,631,758	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,097,434	M382K	probably benign	Het
Dchs2	G	A	3: 83,354,398	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,416,419	N51S	probably damaging	Het
Dnah17	A	G	11: 118,049,866		probably null	Het
Dnal1	A	G	12: 84,131,343	I35V	probably benign	Het
Dtnbp1	A	G	13: 44,931,070	F198S	probably damaging	Het
Edar	A	T	10: 58,612,008	S160T	probably benign	Het
Enpp3	A	T	10: 24,798,174	N409K	probably damaging	Het
Ercc6	T	A	14: 32,560,729	C726*	probably null	Het
Extl2	G	A	3: 116,027,406	V301I	possibly damaging	Het
G2e3	A	G	12: 51,371,604	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Galnt17	A	G	5: 131,306,380	V74A	probably damaging	Het
Ggta1	A	G	2: 35,414,244	W76R	probably damaging	Het
Gm13089	T	C	4: 143,702,674			Het
Gm9573	A	T	17: 35,619,231	S1354R	unknown	Het
Gm9772	T	A	17: 22,007,159	D48V	probably benign	Het
Herpud2	T	C	9: 25,108,897	T388A	probably damaging	Het
Il23r	T	A	6: 67,490,736	M16L	possibly damaging	Het
Ints1	G	A	5: 139,767,726	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,194,598	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,630,331	V248E	probably damaging	Het
Krtap5-5	A	G	7: 142,229,692	C74R	unknown	Het
Luzp1	G	T	4: 136,540,932	L155F	probably damaging	Het
Mcam	T	C	9: 44,138,895	V209A	probably benign	Het
Med1	G	C	11: 98,155,965	T1335R	unknown	Het
Mroh2b	A	G	15: 4,949,009	I1346V	probably damaging	Het
Mrpl4	C	G	9: 21,007,679	Q201E	probably benign	Het
Mylk2	T	C	2: 152,915,704	L326P	probably damaging	Het
Myot	A	T	18: 44,346,173	R326*	probably null	Het
Nox3	T	A	17: 3,671,775	R288S	probably damaging	Het
Nox4	A	T	7: 87,395,768	Y572F	unknown	Het
Olfr1396	A	G	11: 49,112,859	L289P	probably damaging	Het
Olfr1436	A	G	19: 12,298,722	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,474,473	E253*	probably null	Het
Plcb2	T	C	2: 118,710,234	H1052R	probably damaging	Het
Plpp5	A	T	8: 25,724,206	Q250L	probably benign	Het
Plxna2	T	C	1: 194,643,871	Y38H	probably benign	Het
Pnpla8	A	G	12: 44,283,180	K172E	probably benign	Het
Prl8a9	T	A	13: 27,560,528	D110V	probably benign	Het
Prrx1	T	C	1: 163,253,964		probably null	Het
Prss52	T	A	14: 64,109,588	H70Q	probably benign	Het
Rcc1	T	C	4: 132,334,563	T300A	probably benign	Het
Rnf114	T	C	2: 167,507,094	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,298,914	I431T	probably damaging	Het
Rnmt	A	G	18: 68,311,655	M232V	probably benign	Het
Rrs1	A	C	1: 9,546,192	Q223H	probably benign	Het
Scyl3	A	T	1: 163,943,869	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,264,448	T533S	probably benign	Het
Slc26a2	A	G	18: 61,198,358	L667P	probably damaging	Het
Snrnp40	T	A	4: 130,384,482	V260D	possibly damaging	Het
Snrpa	A	C	7: 27,189,453	M174R	probably benign	Het
Ss18l1	C	T	2: 180,058,157	A270V	possibly damaging	Het
Stk19	G	T	17: 34,824,656	Q193K	probably benign	Het
Syne1	T	A	10: 5,424,382	I142L	probably damaging	Het
Tbx2	T	C	11: 85,840,901	S675P	probably benign	Het
Tcaf1	A	G	6: 42,675,355	I731T	probably damaging	Het
Tg	G	T	15: 66,694,768	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,597,948	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Wls	A	T	3: 159,873,007	N69Y	probably benign	Het
Wnk2	A	G	13: 49,100,981	F353L	possibly damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp64	C	T	2: 168,894,072	G562R	probably benign	Het
Zfp663	T	G	2: 165,352,808	E497A	probably damaging	Het
Zfp995	A	T	17: 21,880,352	C300*	probably null	Het

Other mutations in Ighv5-9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Ighv5-9-1	APN	12	113736390	missense	probably damaging	1.00
R4921:Ighv5-9-1	UTSW	12	113736294	missense	possibly damaging	0.61
R5161:Ighv5-9-1	UTSW	12	113736157	missense	possibly damaging	0.70
R5559:Ighv5-9-1	UTSW	12	113736125	nonsense	probably null
R5678:Ighv5-9-1	UTSW	12	113736587	missense	possibly damaging	0.72
R7618:Ighv5-9-1	UTSW	12	113736199	missense	probably damaging	0.99
R7791:Ighv5-9-1	UTSW	12	113736545	missense	probably damaging	0.99
R9272:Ighv5-9-1	UTSW	12	113736198	missense	probably damaging	1.00
R9331:Ighv5-9-1	UTSW	12	113736258	missense	possibly damaging	0.80
Z1088:Ighv5-9-1	UTSW	12	113736120	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCAGGTACAGGGTGTTCC -3'
(R):5'- GAACTTCGGGCTCAGATTGATTTTC -3'

Sequencing Primer
(F):5'- CCTGGCATTGTCTCTGGAG -3'
(R):5'- TGAGAAGAGATGACATCTGTTGTATG -3'

Posted On

2019-10-17