Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Zbtb44'

695313

Institutional Source

Beutler Lab

Gene Symbol

Zbtb44

Ensembl Gene

ENSMUSG00000047412

Gene Name

zinc finger and BTB domain containing 44

Synonyms

Btbd15, 6030404E16Rik

MMRRC Submission

068941-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.482) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30941940-30987181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30965309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 240 (I240F)

Ref Sequence

ENSEMBL: ENSMUSP00000149386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115222] [ENSMUST00000167346] [ENSMUST00000216649] [ENSMUST00000217092]

AlphaFold

Q8R0A2

Predicted Effect

probably benign
Transcript: ENSMUST00000115222
AA Change: I240F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110877
Gene: ENSMUSG00000047412
AA Change: I240F

Domain	Start	End	E-Value	Type
BTB	31	128	3.58e-26	SMART
low complexity region	304	318	N/A	INTRINSIC
ZnF_C2H2	399	421	2.43e-4	SMART
ZnF_C2H2	427	449	3.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167346
AA Change: I240F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133109
Gene: ENSMUSG00000047412
AA Change: I240F

Domain	Start	End	E-Value	Type
BTB	31	128	3.58e-26	SMART
low complexity region	304	318	N/A	INTRINSIC
ZnF_C2H2	381	403	2.43e-4	SMART
ZnF_C2H2	409	431	3.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213202

Predicted Effect

probably benign
Transcript: ENSMUST00000216649
AA Change: I240F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000217092
AA Change: I240F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,691,811 (GRCm39)	E34G	probably damaging	Het
Aldh1a3	A	T	7: 66,058,867 (GRCm39)	L157*	probably null	Het
Asic2	T	A	11: 80,784,872 (GRCm39)	T356S	probably benign	Het
Ate1	T	C	7: 129,996,463 (GRCm39)	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,350,423 (GRCm39)	Q474L		Het
Calhm6	T	C	10: 34,002,363 (GRCm39)	E240G	probably damaging	Het
Carf	C	A	1: 60,189,842 (GRCm39)	T689K	possibly damaging	Het
Carmil2	A	G	8: 106,412,922 (GRCm39)	D6G	probably benign	Het
Ccnd2	A	C	6: 127,127,663 (GRCm39)	V25G	probably damaging	Het
Ccnk	T	A	12: 108,159,978 (GRCm39)	F153L	probably damaging	Het
Cdh23	C	T	10: 60,249,485 (GRCm39)	G808E	probably damaging	Het
Clec11a	C	T	7: 43,954,317 (GRCm39)	R212Q	probably damaging	Het
Cog4	T	C	8: 111,608,384 (GRCm39)	W749R	probably damaging	Het
Col6a3	T	A	1: 90,738,301 (GRCm39)	T1073S	probably benign	Het
Col6a4	T	A	9: 105,952,209 (GRCm39)	D563V	probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crebbp	A	C	16: 3,914,346 (GRCm39)	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,449,051 (GRCm39)	G2737W		Het
Ddrgk1	T	C	2: 130,500,227 (GRCm39)	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,373,796 (GRCm39)	Q589R	probably benign	Het
Dnah10	A	G	5: 124,907,475 (GRCm39)	D4336G	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,938 (GRCm39)	Q140L	possibly damaging	Het
Ergic3	A	G	2: 155,850,780 (GRCm39)	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,329,497 (GRCm39)	S421T	probably benign	Het
Fndc3a	T	A	14: 72,921,162 (GRCm39)	H4L	possibly damaging	Het
Gid8	T	A	2: 180,359,756 (GRCm39)	Y213*	probably null	Het
Hephl1	G	T	9: 15,000,375 (GRCm39)	H292Q	probably damaging	Het
Hexb	T	C	13: 97,314,414 (GRCm39)	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,746,788 (GRCm39)	R168H	probably benign	Het
Hus1	A	G	11: 8,956,056 (GRCm39)	I159T	probably damaging	Het
Inha	A	G	1: 75,486,133 (GRCm39)	T143A	probably benign	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Itgae	G	T	11: 73,016,089 (GRCm39)	C766F	possibly damaging	Het
Kank4	T	C	4: 98,666,563 (GRCm39)	E628G	probably benign	Het
Kctd19	T	C	8: 106,120,571 (GRCm39)	H221R	probably benign	Het
Llgl1	A	G	11: 60,597,934 (GRCm39)	E351G	probably benign	Het
Lrba	A	G	3: 86,202,508 (GRCm39)	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,291,713 (GRCm39)	R3489*	probably null	Het
Lrriq1	T	C	10: 103,050,640 (GRCm39)	N704S	probably benign	Het
Mbtps1	T	C	8: 120,235,693 (GRCm39)	N995S	probably benign	Het
Mga	T	C	2: 119,757,013 (GRCm39)	C1077R	probably damaging	Het
Muc21	G	A	17: 35,932,131 (GRCm39)	P685L	unknown	Het
Ndufv1	A	T	19: 4,059,912 (GRCm39)	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,429,660 (GRCm39)	L226P	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Or12k8	A	C	2: 36,975,016 (GRCm39)	M248R	probably benign	Het
Or1d2	A	G	11: 74,255,791 (GRCm39)	T99A	probably benign	Het
Or2n1d	A	T	17: 38,646,224 (GRCm39)	M59L	probably damaging	Het
Or5b99	G	A	19: 12,976,428 (GRCm39)	C26Y	probably benign	Het
Or7g35	A	T	9: 19,496,379 (GRCm39)	D182V	probably benign	Het
Phc3	A	G	3: 30,968,691 (GRCm39)	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Ppp4c	A	T	7: 126,386,419 (GRCm39)	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,422,023 (GRCm39)	P308T	probably damaging	Het
Rhot1	A	G	11: 80,148,380 (GRCm39)	T607A	probably null	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,701,294 (GRCm39)	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,672,571 (GRCm39)	Y36H	probably damaging	Het
Sox17	T	C	1: 4,562,447 (GRCm39)	Y251C	probably damaging	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Taf4b	T	C	18: 14,946,296 (GRCm39)	V373A	probably benign	Het
Tecpr2	T	A	12: 110,881,184 (GRCm39)	V107E	probably damaging	Het
Them7	A	G	2: 105,209,124 (GRCm39)	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Ttn	C	T	2: 76,625,937 (GRCm39)	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,754,615 (GRCm39)	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,196,343 (GRCm39)	R309*	probably null	Het
Vmn2r10	A	T	5: 109,144,212 (GRCm39)	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,917,207 (GRCm39)	Q435R	probably null	Het
Vmn2r50	A	T	7: 9,781,571 (GRCm39)	H391Q	probably damaging	Het

Other mutations in Zbtb44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Zbtb44	APN	9	30,965,606 (GRCm39)	missense	possibly damaging	0.78
IGL01464:Zbtb44	APN	9	30,965,580 (GRCm39)	missense	probably damaging	1.00
IGL02162:Zbtb44	APN	9	30,964,688 (GRCm39)	missense	probably benign	0.00
IGL03295:Zbtb44	APN	9	30,964,753 (GRCm39)	missense	probably benign	0.00
IGL03412:Zbtb44	APN	9	30,964,763 (GRCm39)	missense	probably benign	0.08
R0137:Zbtb44	UTSW	9	30,978,006 (GRCm39)	missense	probably damaging	1.00
R2182:Zbtb44	UTSW	9	30,977,972 (GRCm39)	missense	possibly damaging	0.94
R2511:Zbtb44	UTSW	9	30,965,539 (GRCm39)	missense	probably damaging	0.99
R4501:Zbtb44	UTSW	9	30,965,462 (GRCm39)	missense	probably damaging	1.00
R4557:Zbtb44	UTSW	9	30,975,544 (GRCm39)	missense	probably damaging	1.00
R4841:Zbtb44	UTSW	9	30,964,701 (GRCm39)	missense	probably damaging	1.00
R5391:Zbtb44	UTSW	9	30,964,601 (GRCm39)	splice site	probably null
R5639:Zbtb44	UTSW	9	30,965,348 (GRCm39)	missense	probably damaging	0.98
R6001:Zbtb44	UTSW	9	30,965,090 (GRCm39)	missense	probably damaging	1.00
R6170:Zbtb44	UTSW	9	30,964,678 (GRCm39)	missense	probably damaging	1.00
R6415:Zbtb44	UTSW	9	30,975,510 (GRCm39)	missense	possibly damaging	0.93
R7658:Zbtb44	UTSW	9	30,965,375 (GRCm39)	missense	probably benign	0.00
R7913:Zbtb44	UTSW	9	30,965,504 (GRCm39)	nonsense	probably null
R9226:Zbtb44	UTSW	9	30,975,524 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ATTCCTGTCTGCCGAGAGTC -3'
(R):5'- TAACAGGCTGGGACACTTCC -3'

Sequencing Primer
(F):5'- TCTGCCGAGAGTCCCGGAG -3'
(R):5'- TGGGACACTTCCTCATGGAC -3'

Posted On

2022-01-20