Mutagenetix > Incidental Mutation

Incidental Mutation 'R9547:Ighv1-69'

720198

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-69

Ensembl Gene

ENSMUSG00000094502

Gene Name

immunoglobulin heavy variable 1-69

Synonyms

Gm16708

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R9547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115586823-115587215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115586885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 83 (F83L)

Ref Sequence

ENSEMBL: ENSMUSP00000143287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103539] [ENSMUST00000199933]

AlphaFold

A0A075B5X7

Predicted Effect

probably benign
Transcript: ENSMUST00000103539
AA Change: F82L

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100320
Gene: ENSMUSG00000094502
AA Change: F82L

Domain	Start	End	E-Value	Type
IGv	35	116	1.23e-30	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199933
AA Change: F83L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143287
Gene: ENSMUSG00000094502
AA Change: F83L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.9e-33	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	G	T	3: 59,772,656 (GRCm39)	M53I	probably benign	Het
Abtb1	C	T	6: 88,815,917 (GRCm39)	V185M	probably damaging	Het
Acod1	A	T	14: 103,292,294 (GRCm39)	S273C	probably benign	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Anks1	T	C	17: 28,270,748 (GRCm39)	L845P	probably damaging	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Cand2	G	A	6: 115,759,757 (GRCm39)	A143T	probably benign	Het
Cep290	A	T	10: 100,380,841 (GRCm39)	H116L	probably benign	Het
Chd9	G	A	8: 91,683,186 (GRCm39)	R542H	unknown	Het
Crnkl1	T	C	2: 145,772,550 (GRCm39)	M176V	possibly damaging	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,624,805 (GRCm39)	E3744G	probably damaging	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fat3	A	T	9: 15,911,142 (GRCm39)	I1620N	possibly damaging	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Fbxw10	G	T	11: 62,767,647 (GRCm39)	V828F	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 141,765,736 (GRCm39)		probably null	Het
Gmip	T	C	8: 70,273,381 (GRCm39)	S891P	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Intu	G	A	3: 40,608,536 (GRCm39)	V183I	probably benign	Het
Ipo4	A	G	14: 55,870,789 (GRCm39)		probably null	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klrc2	C	G	6: 129,633,812 (GRCm39)	A188P	probably benign	Het
Lipc	T	C	9: 70,728,146 (GRCm39)	D104G	unknown	Het
Lrrc63	A	T	14: 75,344,828 (GRCm39)	L420M	probably damaging	Het
Ly75	C	A	2: 60,161,069 (GRCm39)		probably null	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtmr9	A	G	14: 63,779,855 (GRCm39)	I78T	possibly damaging	Het
Npepl1	A	G	2: 173,962,030 (GRCm39)	D304G	probably null	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or2n1d	G	T	17: 38,646,341 (GRCm39)	V98F	possibly damaging	Het
Or5k3	T	C	16: 58,970,107 (GRCm39)	I298T	possibly damaging	Het
Or8g24	G	A	9: 38,989,927 (GRCm39)	T38I	probably damaging	Het
Pcdh18	A	T	3: 49,709,506 (GRCm39)	I603K	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Phf10	A	G	17: 15,166,459 (GRCm39)		probably null	Het
Phgdh	A	G	3: 98,241,950 (GRCm39)	S55P	probably damaging	Het
Poll	G	T	19: 45,546,359 (GRCm39)	P227H	probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Psg26	T	C	7: 18,214,087 (GRCm39)	I192V	probably benign	Het
Rpgrip1l	T	C	8: 91,977,873 (GRCm39)	D1038G	probably benign	Het
Snx18	A	G	13: 113,753,754 (GRCm39)	M393T	possibly damaging	Het
Srsf11	A	G	3: 157,717,735 (GRCm39)	C448R	unknown	Het
Sv2c	A	G	13: 96,185,008 (GRCm39)	I223T	probably benign	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tex21	T	C	12: 76,253,591 (GRCm39)	T441A	probably damaging	Het
Thnsl2	T	A	6: 71,116,810 (GRCm39)	D114V	probably damaging	Het
Trpm2	A	G	10: 77,748,467 (GRCm39)	V1401A	probably benign	Het
Ttll6	T	C	11: 96,049,588 (GRCm39)	S769P	probably benign	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Ublcp1	T	C	11: 44,347,251 (GRCm39)	Y290C	probably damaging	Het
Vmn1r216	A	T	13: 23,283,455 (GRCm39)	D46V	probably damaging	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Zfp266	A	G	9: 20,411,746 (GRCm39)	S144P	probably benign	Het

Other mutations in Ighv1-69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01738:Ighv1-69	APN	12	115,587,061 (GRCm39)	missense	possibly damaging	0.91
R0567:Ighv1-69	UTSW	12	115,587,169 (GRCm39)	critical splice donor site	probably benign
R4755:Ighv1-69	UTSW	12	115,587,178 (GRCm39)	missense	probably benign	0.01
R7022:Ighv1-69	UTSW	12	115,586,834 (GRCm39)	missense	probably benign	0.04
R7042:Ighv1-69	UTSW	12	115,586,909 (GRCm39)	missense	probably benign	0.00
R7675:Ighv1-69	UTSW	12	115,587,209 (GRCm39)	missense	probably damaging	1.00
R9546:Ighv1-69	UTSW	12	115,586,885 (GRCm39)	missense	possibly damaging	0.79
R9695:Ighv1-69	UTSW	12	115,586,987 (GRCm39)	missense	probably benign	0.07
Z1088:Ighv1-69	UTSW	12	115,586,873 (GRCm39)	missense	probably benign
Z1176:Ighv1-69	UTSW	12	115,586,873 (GRCm39)	missense	probably benign
Z1177:Ighv1-69	UTSW	12	115,586,873 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCAGGGCAGTTTGCTACTC -3'
(R):5'- CTGTGGGTGAAAATGACATCC -3'

Sequencing Primer
(F):5'- GCAGTTTGCTACTCCTCCAGGG -3'
(R):5'- GGGTGAAAATGACATCCACTCTCTC -3'

Posted On

2022-07-18