Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Ighv1-23'

644213

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

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R8328 (G1)

Quality Score

160.009

Status

Not validated

Chromosome

Chromosomal Location

114764450-114764883 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114764496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 102 (L102P)

Ref Sequence

ENSEMBL: ENSMUSP00000141293 (fasta)

Gene Model

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

AlphaFold

A0A0A6YVW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000194625
AA Change: L102P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141293
Gene: ENSMUSG00000103290
AA Change: L102P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.5e-26	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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,890,012	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,454,866	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215	E489K	probably benign	Het
Arhgef28	A	T	13: 98,051,009	H259Q	possibly damaging	Het
C3	T	C	17: 57,220,973	S749G	probably benign	Het
Celsr1	A	G	15: 85,922,244	S2338P	probably benign	Het
Ces2a	A	T	8: 104,737,366	N210I	probably damaging	Het
Cuzd1	A	T	7: 131,311,616	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,348,368	H67L	probably benign	Het
Dennd5b	A	G	6: 149,020,617	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,980,009	L49F	unknown	Het
Dpy19l1	T	A	9: 24,475,390	K9*	probably null	Het
Dsc2	T	C	18: 20,032,519	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,376,950	F6I	probably benign	Het
Fam214b	T	C	4: 43,034,751	T323A	probably benign	Het
Gm13084	A	G	4: 143,810,810	L317P	probably damaging	Het
Hck	C	T	2: 153,129,067	A83V	probably damaging	Het
Hdc	T	C	2: 126,601,883	E292G	probably damaging	Het
Kdm3b	G	A	18: 34,793,070	V88M	probably damaging	Het
Kremen2	A	G	17: 23,742,771	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,235,641	I622N	probably damaging	Het
Megf8	A	G	7: 25,347,492	N1600S	probably benign	Het
Mical3	A	G	6: 120,935,177	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323	Y26N	probably damaging	Het
Nrl	T	C	14: 55,520,706	E188G	probably damaging	Het
Olfr311	T	A	11: 58,841,634	D173E	probably benign	Het
Olfr464	A	G	11: 87,914,159	M249T	possibly damaging	Het
Polr1a	G	A	6: 71,920,734	E238K	probably benign	Het
Prr5	G	C	15: 84,703,186	*388S	probably null	Het
Rptor	A	G	11: 119,892,647	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,577,864	I664K	probably damaging	Het
Stn1	C	A	19: 47,517,059	R152L	probably damaging	Het
Syde2	T	C	3: 146,015,741	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,790,062	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,806,473	V16L	probably benign	Het
Wdr19	A	G	5: 65,225,295	E454G	probably damaging	Het
Zan	C	T	5: 137,394,464	E4590K	unknown	Het
Zfp579	T	G	7: 4,994,867	H15P	unknown	Het
Zfp628	A	G	7: 4,919,814	N345S	probably benign	Het
Zfp944	T	A	17: 22,339,724	K181*	probably null	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly 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
R6603:Ighv1-23	UTSW	12	114764521	missense	probably damaging	1.00
R7438:Ighv1-23	UTSW	12	114764475	missense	probably damaging	1.00
R7771:Ighv1-23	UTSW	12	114764736	missense	probably benign	0.25
R8858:Ighv1-23	UTSW	12	114764463	missense	probably benign	0.39
R9283:Ighv1-23	UTSW	12	114764605	missense	probably damaging	1.00
Z1177:Ighv1-23	UTSW	12	114764685	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTACAAAGGTGACAAAGGCAC -3'
(R):5'- GCTTCGGGCTACACATTTACTG -3'

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

Posted On

2020-09-02