Mutagenetix > Incidental Mutation

Incidental Mutation 'R7672:Fam107b'

592200

Institutional Source

Beutler Lab

Gene Symbol

Fam107b

Ensembl Gene

ENSMUSG00000026655

Gene Name

family with sequence similarity 107, member B

Synonyms

3110001A13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3705049-3783179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3773959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 24 (V24A)

Ref Sequence

ENSEMBL: ENSMUSP00000027965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027965] [ENSMUST00000115052] [ENSMUST00000115053] [ENSMUST00000115054] [ENSMUST00000115055] [ENSMUST00000176254] [ENSMUST00000177037] [ENSMUST00000177125] [ENSMUST00000226435]

AlphaFold

Q3TGF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000027965
AA Change: V24A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027965
Gene: ENSMUSG00000026655
AA Change: V24A

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115052
AA Change: V46A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110704
Gene: ENSMUSG00000026655
AA Change: V46A

Domain	Start	End	E-Value	Type
Pfam:DUF1151	29	142	3.4e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115053
AA Change: V24A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110705
Gene: ENSMUSG00000026655
AA Change: V24A

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115054
AA Change: V24A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110706
Gene: ENSMUSG00000026655
AA Change: V24A

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115055
AA Change: V24A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110707
Gene: ENSMUSG00000026655
AA Change: V24A

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176254

SMART Domains

Protein: ENSMUSP00000135846
Gene: ENSMUSG00000026655

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	64	2.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177037
AA Change: V52A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135325
Gene: ENSMUSG00000026655
AA Change: V52A

Domain	Start	End	E-Value	Type
Pfam:DUF1151	29	68	3.3e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177125
AA Change: V24A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226435
AA Change: V200A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,836,191 (GRCm39)	H134R	probably damaging	Het
Adcy4	A	G	14: 56,018,362 (GRCm39)	M195T	probably benign	Het
Aktip	T	C	8: 91,856,285 (GRCm39)	N64S	possibly damaging	Het
Aldoart1	C	A	4: 72,770,747 (GRCm39)	M20I	probably benign	Het
Alms1	T	C	6: 85,592,333 (GRCm39)	L395P	probably damaging	Het
Ankrd9	C	A	12: 110,943,180 (GRCm39)	V252F	probably benign	Het
Apof	A	T	10: 128,104,885 (GRCm39)	H13L	probably benign	Het
Bahcc1	T	C	11: 120,174,172 (GRCm39)	F1644S	possibly damaging	Het
Baz2a	A	G	10: 127,959,726 (GRCm39)	D1377G	possibly damaging	Het
Bbox1	T	A	2: 110,135,794 (GRCm39)	I62F	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTGCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,455 (GRCm39)		probably benign	Het
Bcas3	C	T	11: 85,286,213 (GRCm39)	R124*	probably null	Het
Bpnt1	T	C	1: 185,078,879 (GRCm39)	V114A	probably damaging	Het
Ccnd1	C	T	7: 144,487,793 (GRCm39)	R228H	possibly damaging	Het
Cd244a	T	C	1: 171,404,853 (GRCm39)	V235A	probably benign	Het
Cramp1	C	T	17: 25,201,440 (GRCm39)	E681K	probably damaging	Het
Crebbp	C	T	16: 3,902,574 (GRCm39)	A2222T	probably benign	Het
Cyp1a2	T	A	9: 57,589,620 (GRCm39)	T65S	probably benign	Het
Cyp26b1	T	G	6: 84,561,351 (GRCm39)	K104Q	probably benign	Het
D430041D05Rik	T	C	2: 104,071,581 (GRCm39)	I556V	probably benign	Het
Dnase1l2	A	G	17: 24,661,219 (GRCm39)	L102P	probably damaging	Het
Eef1ece2	C	A	16: 20,457,417 (GRCm39)	A483E	probably damaging	Het
Elac1	C	T	18: 73,871,925 (GRCm39)	G357S	probably benign	Het
Enam	C	A	5: 88,651,830 (GRCm39)	T1113N	possibly damaging	Het
Eogt	A	T	6: 97,090,870 (GRCm39)	I423N	probably damaging	Het
Epc2	T	C	2: 49,435,831 (GRCm39)	S612P	possibly damaging	Het
Fhip2a	A	G	19: 57,373,750 (GRCm39)	H670R	possibly damaging	Het
Foxj3	C	T	4: 119,477,429 (GRCm39)	P413L	unknown	Het
Frg1	T	C	8: 41,870,040 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,820,455 (GRCm39)	V5396D	possibly damaging	Het
Hdlbp	T	C	1: 93,364,821 (GRCm39)	T149A	possibly damaging	Het
Heatr1	A	T	13: 12,453,545 (GRCm39)	Q2140L	probably damaging	Het
Iqcd	T	C	5: 120,744,881 (GRCm39)	L403P	probably damaging	Het
Kifbp	A	G	10: 62,413,852 (GRCm39)	I102T	probably benign	Het
Kpna2	T	G	11: 106,879,789 (GRCm39)	N505T	probably benign	Het
Lipo3	T	A	19: 33,757,785 (GRCm39)	E228V	probably benign	Het
Map4k3	C	T	17: 80,922,500 (GRCm39)	V474I	possibly damaging	Het
Mrpl11	T	C	19: 5,012,424 (GRCm39)	S2P	probably damaging	Het
Mug2	A	G	6: 122,017,678 (GRCm39)	I472V	probably benign	Het
Myom1	G	A	17: 71,391,235 (GRCm39)	V915M	possibly damaging	Het
Nedd9	A	T	13: 41,492,198 (GRCm39)	I104N	possibly damaging	Het
Nphp3	A	G	9: 103,909,159 (GRCm39)	M790V	probably benign	Het
Nr3c2	C	T	8: 77,635,838 (GRCm39)	P313L	probably damaging	Het
Obsl1	A	G	1: 75,469,365 (GRCm39)	V1192A	probably benign	Het
Or10j2	C	T	1: 173,098,440 (GRCm39)	R233W	probably benign	Het
Or52e7	A	G	7: 104,684,750 (GRCm39)	H115R	probably damaging	Het
Or5t16	T	C	2: 86,818,663 (GRCm39)	I286V	possibly damaging	Het
Prr5l	T	G	2: 101,565,083 (GRCm39)	E151A	probably damaging	Het
Psmb8	G	T	17: 34,417,404 (GRCm39)	R11L	probably benign	Het
Ptprg	T	A	14: 12,211,668 (GRCm38)	H983Q	probably benign	Het
Ptprj	T	C	2: 90,290,940 (GRCm39)	N600D	possibly damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rc3h1	A	G	1: 160,778,454 (GRCm39)	S460G	probably damaging	Het
Rhot2	A	G	17: 26,062,079 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,927 (GRCm39)	T726A	probably damaging	Het
Samd9l	G	A	6: 3,373,646 (GRCm39)	T1205I	probably benign	Het
Sh2b3	C	T	5: 121,956,822 (GRCm39)		probably null	Het
Slc22a18	G	T	7: 143,044,557 (GRCm39)	C170F	probably damaging	Het
Slc24a1	G	A	9: 64,855,209 (GRCm39)	T566I	unknown	Het
Slc4a5	T	A	6: 83,237,517 (GRCm39)	C167S	probably damaging	Het
Slc8b1	T	G	5: 120,671,100 (GRCm39)	V579G	probably damaging	Het
Snrnp200	T	C	2: 127,063,822 (GRCm39)	V667A	probably damaging	Het
Sp8	C	A	12: 118,813,070 (GRCm39)	S308R	possibly damaging	Het
Srsf9	T	A	5: 115,468,619 (GRCm39)	V85E	probably damaging	Het
Syne1	T	C	10: 5,168,527 (GRCm39)	I5285V	probably benign	Het
Tmem245	T	C	4: 56,947,069 (GRCm39)	I115V	probably benign	Het
Triqk	A	G	4: 12,980,502 (GRCm39)	D82G	probably benign	Het
Trmt11	A	T	10: 30,463,520 (GRCm39)	S198R	probably damaging	Het
Ube4b	C	T	4: 149,471,661 (GRCm39)	R75Q	probably benign	Het
Ugt3a1	C	T	15: 9,310,779 (GRCm39)	Q354*	probably null	Het
Vmn1r202	A	G	13: 22,685,850 (GRCm39)	V189A	probably benign	Het
Vmn2r26	A	G	6: 124,016,606 (GRCm39)	I357V	probably benign	Het
Wdr6	T	C	9: 108,450,947 (GRCm39)	K914R	probably benign	Het
Zfat	T	C	15: 68,130,535 (GRCm39)	M1V	probably null	Het
Zfp207	A	G	11: 80,280,116 (GRCm39)	M171V	probably benign	Het
Zfp568	C	T	7: 29,697,212 (GRCm39)	T44I	probably damaging	Het

Other mutations in Fam107b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Fam107b	APN	2	3,779,565 (GRCm39)	missense	probably damaging	1.00
IGL03377:Fam107b	APN	2	3,779,481 (GRCm39)	missense	probably damaging	1.00
R4021:Fam107b	UTSW	2	3,779,511 (GRCm39)	missense	probably damaging	1.00
R4234:Fam107b	UTSW	2	3,771,777 (GRCm39)	missense	possibly damaging	0.67
R4841:Fam107b	UTSW	2	3,779,580 (GRCm39)	missense	probably damaging	1.00
R4842:Fam107b	UTSW	2	3,779,580 (GRCm39)	missense	probably damaging	1.00
R4938:Fam107b	UTSW	2	3,773,907 (GRCm39)	missense	probably benign	0.00
R5557:Fam107b	UTSW	2	3,771,791 (GRCm39)	nonsense	probably null
R5754:Fam107b	UTSW	2	3,779,457 (GRCm39)	missense	probably damaging	1.00
R5892:Fam107b	UTSW	2	3,779,601 (GRCm39)	missense	probably damaging	1.00
R5996:Fam107b	UTSW	2	3,780,667 (GRCm39)	splice site	probably null
R7634:Fam107b	UTSW	2	3,771,777 (GRCm39)	missense	possibly damaging	0.67
R7652:Fam107b	UTSW	2	3,773,884 (GRCm39)	missense	probably benign	0.00
R7664:Fam107b	UTSW	2	3,571,747 (GRCm39)	missense	probably damaging	0.98
X0027:Fam107b	UTSW	2	3,779,504 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCAGACATAGCTCTTGGGAC -3'
(R):5'- ATGCTTGGTAAAAGGATGCCTTC -3'

Sequencing Primer
(F):5'- AGACATAGCTCTTGGGACCTTGAC -3'
(R):5'- AGGATGCCTTCAACATGGC -3'

Posted On

2019-11-12