Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Fam126b'

702654

Institutional Source

Beutler Lab

Gene Symbol

Fam126b

Ensembl Gene

ENSMUSG00000038174

Gene Name

family with sequence similarity 126, member B

Synonyms

D1Ertd53e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R9268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58522806-58586323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58552202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 94 (D94G)

Ref Sequence

ENSEMBL: ENSMUSP00000095331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161000] [ENSMUST00000161600] [ENSMUST00000187717]

AlphaFold

Q8C729

Predicted Effect

probably damaging
Transcript: ENSMUST00000038372
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: D94G

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097724
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: D94G

Domain	Start	End	E-Value	Type
Pfam:Hyccin	22	330	3.3e-126	PFAM
low complexity region	374	399	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161000
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000125653
Gene: ENSMUSG00000038174
AA Change: D94G

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	99	3e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161600
AA Change: D94G

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

SMART Domains

Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: D94G

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	1.7e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187717

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,061,723	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,432,034	T260I	probably damaging	Het
Acap2	A	T	16: 31,136,574	V161E	probably damaging	Het
Adnp	A	G	2: 168,189,313	I26T	possibly damaging	Het
Alk	T	C	17: 71,874,195	T1367A	probably damaging	Het
Apoa5	A	T	9: 46,270,421	D265V	probably benign	Het
Asb15	G	A	6: 24,566,299	R417H	probably benign	Het
Atg2a	A	C	19: 6,241,875	H27P	probably damaging	Het
Bace1	G	T	9: 45,855,984		probably benign	Het
Camk1d	A	G	2: 5,299,090	S351P	probably benign	Het
Carf	C	A	1: 60,109,399	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,949,381	F76S	probably damaging	Het
Ces1b	A	C	8: 93,071,955	V201G	probably damaging	Het
Clk1	A	G	1: 58,419,723	L133S	unknown	Het
Clstn3	G	A	6: 124,456,921	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cyp2j11	A	T	4: 96,319,544		probably benign	Het
Dctn4	T	A	18: 60,526,232	M1K	probably null	Het
Dnah12	A	G	14: 26,849,298	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,569,586	V58D	possibly damaging	Het
Egfr	T	A	11: 16,905,410	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,441,220		probably null	Het
Enam	A	G	5: 88,492,919	M147V	probably benign	Het
Etaa1	A	T	11: 17,946,419	V566E	probably damaging	Het
F13a1	C	T	13: 36,892,936	G593D	probably benign	Het
Far2	C	T	6: 148,158,920	T257I	probably benign	Het
Fat4	C	T	3: 38,888,247	R430C	probably damaging	Het
Fhod3	T	C	18: 24,709,775		probably null	Het
Fuca2	G	A	10: 13,514,819	W453*	probably null	Het
Gm11238	T	C	4: 73,657,136	S351P	probably damaging	Het
Hfe2	T	C	3: 96,528,565	F380L	probably benign	Het
Igkv4-72	A	T	6: 69,226,996	Y70*	probably null	Het
Kdm1b	A	C	13: 47,064,229	N388T	probably benign	Het
Klri2	A	T	6: 129,733,074	W188R	probably damaging	Het
Lama4	A	G	10: 39,074,692	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,254,609	S89P	probably benign	Het
Macf1	T	C	4: 123,473,789	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,075,041	L265P	probably damaging	Het
Myo3b	A	C	2: 70,426,961	*1334C	probably null	Het
Nfatc4	A	T	14: 55,827,228	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,436,384	M393K	probably damaging	Het
Olfr1499	A	T	19: 13,815,024	C189S	probably damaging	Het
Olfr183	T	G	16: 58,999,720	F12V	probably damaging	Het
Otogl	A	T	10: 107,781,056	C1787S	probably damaging	Het
Papola	A	G	12: 105,799,773	E44G	probably benign	Het
Parp1	A	G	1: 180,587,944	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,643,623	E522V	probably benign	Het
Peli2	A	G	14: 48,281,470	E225G	probably benign	Het
Pus7l	T	C	15: 94,533,564	I395V	probably benign	Het
Rmi1	T	C	13: 58,408,039	I34T	probably damaging	Het
Rnf220	A	G	4: 117,489,636	I193T	probably benign	Het
Rpgrip1l	T	C	8: 91,280,727	T412A	probably benign	Het
Shisa7	T	G	7: 4,834,334	D244A	probably damaging	Het
Slco3a1	T	C	7: 74,303,198	T538A	probably benign	Het
Sptlc1	A	T	13: 53,358,836	I162N	probably damaging	Het
Ssrp1	C	A	2: 85,040,262		probably benign	Het
Sytl2	A	G	7: 90,385,151	N523S	probably benign	Het
Tcf20	A	G	15: 82,856,504	S249P	probably benign	Het
Thumpd3	T	A	6: 113,066,858	F411L	probably damaging	Het
Ttc30a1	A	T	2: 75,980,935	V268E	probably benign	Het
Ttn	A	G	2: 76,937,735	W3007R	unknown	Het
Ulbp1	A	T	10: 7,446,392	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,307,592	V99E	probably damaging	Het
Wdr47	T	C	3: 108,618,496	F112L	probably benign	Het
Wnk2	A	G	13: 49,082,031	V636A	possibly damaging	Het
Zswim8	T	C	14: 20,711,840	L227P	probably damaging	Het

Other mutations in Fam126b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Fam126b	APN	1	58540253	splice site	probably benign
IGL00468:Fam126b	APN	1	58530232	missense	probably benign	0.25
IGL00701:Fam126b	APN	1	58535482	missense	possibly damaging	0.59
IGL00795:Fam126b	APN	1	58552179	missense	probably damaging	1.00
IGL02023:Fam126b	APN	1	58530115	missense	possibly damaging	0.53
IGL02501:Fam126b	APN	1	58540191	missense	probably damaging	1.00
IGL02657:Fam126b	APN	1	58535402	missense	probably damaging	1.00
IGL02970:Fam126b	APN	1	58539617	missense	probably damaging	1.00
IGL03221:Fam126b	APN	1	58540186	missense	probably benign	0.00
IGL03240:Fam126b	APN	1	58529917	missense	probably damaging	1.00
PIT4812001:Fam126b	UTSW	1	58548703	missense	possibly damaging	0.78
R0455:Fam126b	UTSW	1	58534479	splice site	probably benign
R1479:Fam126b	UTSW	1	58552268	nonsense	probably null
R1529:Fam126b	UTSW	1	58539607	missense	probably benign	0.00
R4275:Fam126b	UTSW	1	58529933	missense	probably benign
R5164:Fam126b	UTSW	1	58535438	missense	probably benign	0.13
R6332:Fam126b	UTSW	1	58529875	missense	probably damaging	0.99
R6352:Fam126b	UTSW	1	58557312	missense	probably damaging	1.00
R6549:Fam126b	UTSW	1	58539600	missense	probably benign	0.03
R7034:Fam126b	UTSW	1	58535537	missense	probably benign	0.17
R7036:Fam126b	UTSW	1	58535537	missense	probably benign	0.17
R7100:Fam126b	UTSW	1	58534494	missense	possibly damaging	0.94
R7237:Fam126b	UTSW	1	58529948	nonsense	probably null
R7378:Fam126b	UTSW	1	58530034	missense	probably benign	0.00
R7403:Fam126b	UTSW	1	58548702	missense	possibly damaging	0.59
R8015:Fam126b	UTSW	1	58535482	missense	possibly damaging	0.59
R8249:Fam126b	UTSW	1	58534637	missense	probably benign	0.10
R8544:Fam126b	UTSW	1	58529822	missense	probably benign	0.09
R8726:Fam126b	UTSW	1	58546126	missense	possibly damaging	0.82
R8829:Fam126b	UTSW	1	58548673	missense	possibly damaging	0.86
R8832:Fam126b	UTSW	1	58548673	missense	possibly damaging	0.86
R8847:Fam126b	UTSW	1	58556554	missense	probably damaging	1.00
R9046:Fam126b	UTSW	1	58529786	missense	probably damaging	0.99
R9177:Fam126b	UTSW	1	58552202	missense	probably damaging	1.00
R9472:Fam126b	UTSW	1	58535482	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- CTGAAGGATGGCATCTGATATAAC -3'
(R):5'- GTGGCTTGGTCAGTTTAATATACAG -3'

Sequencing Primer
(F):5'- TCAATTATGTCTCCAACAACCTTAC -3'
(R):5'- GAAATACATTACAGCTCAAGCAATGG -3'

Posted On

2022-03-25