Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:BB014433'

598575

Institutional Source

Beutler Lab

Gene Symbol

BB014433

Ensembl Gene

ENSMUSG00000049008

Gene Name

expressed sequence BB014433

Synonyms

MMRRC Submission

045827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15091446-15096078 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15092395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 153 (V153M)

Ref Sequence

ENSEMBL: ENSMUSP00000053487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050493] [ENSMUST00000123331] [ENSMUST00000179941]

AlphaFold

Q8C5R5

Predicted Effect

probably damaging
Transcript: ENSMUST00000050493
AA Change: V153M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000123331

SMART Domains

Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008

Domain	Start	End	E-Value	Type
internal_repeat_1	27	51	1.93e-5	PROSPERO
internal_repeat_2	31	59	5.9e-5	PROSPERO
internal_repeat_2	85	113	5.9e-5	PROSPERO
internal_repeat_1	95	117	1.93e-5	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000179941
AA Change: V153M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,069,535 (GRCm39)	A1287T	probably damaging	Het
Ahnak	A	G	19: 8,992,411 (GRCm39)	K4565R	probably damaging	Het
Asb13	A	G	13: 3,699,463 (GRCm39)	Y221C	probably damaging	Het
Brip1	T	C	11: 85,952,850 (GRCm39)	E977G	probably benign	Het
C3	T	A	17: 57,522,797 (GRCm39)	D1029V	probably damaging	Het
Ccdc116	T	C	16: 16,957,455 (GRCm39)	E568G	probably benign	Het
Cdhr2	T	C	13: 54,866,088 (GRCm39)	V296A	probably damaging	Het
Cenpe	A	G	3: 134,946,702 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,491,753 (GRCm39)	V357A	probably damaging	Het
Coa3	A	T	11: 101,169,641 (GRCm39)	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,675,947 (GRCm39)	N255S	probably benign	Het
Cysrt1	T	C	2: 25,129,237 (GRCm39)	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,690,842 (GRCm39)	E52G	possibly damaging	Het
Derl1	T	C	15: 57,743,436 (GRCm39)	D97G	probably damaging	Het
Ebf3	A	G	7: 136,911,092 (GRCm39)	Y141H	probably damaging	Het
Eci1	T	A	17: 24,652,125 (GRCm39)	L49*	probably null	Het
Gzma	C	T	13: 113,234,829 (GRCm39)	C54Y	probably damaging	Het
Hydin	A	G	8: 111,291,717 (GRCm39)	N3403S	probably damaging	Het
Ide	T	C	19: 37,275,525 (GRCm39)	N495D		Het
Ighv1-23	T	A	12: 114,728,356 (GRCm39)	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,228,172 (GRCm39)	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,336,949 (GRCm39)	H272N	probably damaging	Het
Lrp6	C	T	6: 134,439,579 (GRCm39)	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,916,476 (GRCm39)	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,740,636 (GRCm39)	E121G	probably damaging	Het
Mzt1	A	T	14: 99,278,012 (GRCm39)	I52N	probably damaging	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or52z12	A	G	7: 103,233,297 (GRCm39)	I23V	probably benign	Het
Or7e166	T	A	9: 19,624,767 (GRCm39)	F215I	probably benign	Het
Pcdhb17	A	C	18: 37,619,962 (GRCm39)	Y584S	possibly damaging	Het
Per3	A	T	4: 151,110,657 (GRCm39)	D380E	probably damaging	Het
Per3	A	T	4: 151,125,902 (GRCm39)	L139Q	probably damaging	Het
Pgap6	T	C	17: 26,341,047 (GRCm39)	Y717H	probably damaging	Het
Pik3cg	T	C	12: 32,254,013 (GRCm39)	H658R	probably benign	Het
Pitpnm3	G	A	11: 71,952,314 (GRCm39)	Q626*	probably null	Het
Polr3e	T	C	7: 120,539,801 (GRCm39)	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,224 (GRCm39)	H866L	possibly damaging	Het
Rnf150	A	G	8: 83,590,832 (GRCm39)	E65G	probably benign	Het
Sema3f	C	A	9: 107,569,625 (GRCm39)	R100L	possibly damaging	Het
Skic3	A	G	13: 76,283,149 (GRCm39)	H792R	probably benign	Het
Smim18	T	C	8: 34,232,370 (GRCm39)	D83G	possibly damaging	Het
Snx13	T	A	12: 35,174,527 (GRCm39)	D685E	probably benign	Het
Stat5a	A	C	11: 100,754,045 (GRCm39)	N125T	probably benign	Het
Stk24	T	C	14: 121,575,045 (GRCm39)	E21G	probably damaging	Het
Tasor	A	G	14: 27,189,516 (GRCm39)	T923A	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tmprss11b	A	T	5: 86,809,554 (GRCm39)		probably null	Het
Trpm2	T	C	10: 77,768,013 (GRCm39)	I829V	probably benign	Het
Ttc39a	T	C	4: 109,288,647 (GRCm39)	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,287,460 (GRCm39)		probably null	Het
Wdr73	G	A	7: 80,542,975 (GRCm39)	A211V	probably benign	Het
Zc3h4	T	C	7: 16,163,824 (GRCm39)	V673A	unknown	Het
Zfp382	A	G	7: 29,832,760 (GRCm39)	H137R	probably damaging	Het
Zp2	T	G	7: 119,742,865 (GRCm39)	D89A	probably damaging	Het
Zpld2	A	T	4: 133,922,754 (GRCm39)	N526K	probably benign	Het
Zranb3	A	C	1: 127,960,605 (GRCm39)	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,763,048 (GRCm39)	V316I	probably damaging	Het

Other mutations in BB014433

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:BB014433	APN	8	15,092,510 (GRCm39)	missense	probably benign	0.03
IGL01595:BB014433	APN	8	15,092,499 (GRCm39)	splice site	probably null
IGL02056:BB014433	APN	8	15,092,435 (GRCm39)	nonsense	probably null
IGL02470:BB014433	APN	8	15,092,803 (GRCm39)	missense	unknown
R0359:BB014433	UTSW	8	15,092,540 (GRCm39)	nonsense	probably null
R1066:BB014433	UTSW	8	15,092,185 (GRCm39)	missense	probably damaging	1.00
R1837:BB014433	UTSW	8	15,092,629 (GRCm39)	missense	unknown
R1838:BB014433	UTSW	8	15,092,629 (GRCm39)	missense	unknown
R2227:BB014433	UTSW	8	15,091,717 (GRCm39)	missense	probably benign	0.34
R4508:BB014433	UTSW	8	15,092,095 (GRCm39)	missense	possibly damaging	0.83
R4882:BB014433	UTSW	8	15,092,016 (GRCm39)	missense	probably benign	0.05
R4996:BB014433	UTSW	8	15,092,166 (GRCm39)	missense	probably benign	0.10
R5988:BB014433	UTSW	8	15,091,854 (GRCm39)	missense	probably damaging	1.00
R6051:BB014433	UTSW	8	15,092,179 (GRCm39)	missense	possibly damaging	0.83
R6483:BB014433	UTSW	8	15,092,208 (GRCm39)	missense	probably benign	0.10
R6505:BB014433	UTSW	8	15,092,304 (GRCm39)	missense	probably benign	0.10
R7237:BB014433	UTSW	8	15,091,765 (GRCm39)	missense	probably benign	0.13
R7847:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R7859:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R8377:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R8560:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
R8993:BB014433	UTSW	8	15,092,101 (GRCm39)	missense	probably damaging	1.00
R9204:BB014433	UTSW	8	15,092,623 (GRCm39)	missense	unknown
R9446:BB014433	UTSW	8	15,091,810 (GRCm39)	small deletion	probably benign
R9542:BB014433	UTSW	8	15,092,160 (GRCm39)	small deletion	probably benign
X0066:BB014433	UTSW	8	15,092,833 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTCTACACACAGCTTTGGAG -3'
(R):5'- TAACCCTGGTGTCTGTACCC -3'

Sequencing Primer
(F):5'- CAGCTTTGGAGGTGTACACAC -3'
(R):5'- TGGTGTCTGTACCCCCAAAG -3'

Posted On

2019-11-26