Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Dnai4'

560848

Institutional Source

Beutler Lab

Gene Symbol

Dnai4

Ensembl Gene

ENSMUSG00000035126

Gene Name

dynein axonemal intermediate chain 4

Synonyms

Wdr78

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102895262-102971521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102923549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 427 (I427L)

Ref Sequence

ENSEMBL: ENSMUSP00000102481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]

AlphaFold

E9PYY5

Predicted Effect

probably benign
Transcript: ENSMUST00000036451
AA Change: I427L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: I427L

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036557
AA Change: I104L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
AA Change: I104L

Domain	Start	End	E-Value	Type
low complexity region	59	67	N/A	INTRINSIC
low complexity region	76	100	N/A	INTRINSIC
WD40	133	172	9.24e-4	SMART
WD40	182	229	5.7e1	SMART
low complexity region	249	261	N/A	INTRINSIC
Blast:WD40	262	296	2e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106868
AA Change: I427L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: I427L

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	8.61e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART
low complexity region	601	613	N/A	INTRINSIC
Blast:WD40	614	648	3e-12	BLAST
WD40	652	692	2.38e-6	SMART
WD40	695	734	1.48e-2	SMART
WD40	739	779	6.14e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116316
AA Change: I427L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: I427L

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,629 (GRCm39)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,074,885 (GRCm39)	Y309*	probably null	Het
Ache	G	A	5: 137,289,751 (GRCm39)	G360D	probably damaging	Het
Acot12	T	C	13: 91,929,361 (GRCm39)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 25,201,417 (GRCm39)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,758,081 (GRCm39)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,251,585 (GRCm39)	V48M	probably damaging	Het
Atm	A	T	9: 53,423,308 (GRCm39)		probably null	Het
B4galt4	T	A	16: 38,574,302 (GRCm39)	F92Y	probably damaging	Het
Brwd1	C	T	16: 95,837,159 (GRCm39)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm39)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,420,698 (GRCm39)	R351G	probably damaging	Het
Ccdc80	T	G	16: 44,917,073 (GRCm39)	S610A	probably benign	Het
Cdh20	C	A	1: 104,881,796 (GRCm39)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,255,383 (GRCm39)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,452,390 (GRCm39)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,814 (GRCm39)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,706,909 (GRCm39)		probably null	Het
Dmwd	C	T	7: 18,814,234 (GRCm39)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,647,988 (GRCm39)	V588A	unknown	Het
Dtx4	C	T	19: 12,459,437 (GRCm39)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm39)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 27,803,446 (GRCm39)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,689,192 (GRCm39)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,980 (GRCm39)	K431T	probably damaging	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,439,948 (GRCm39)	N94S	probably benign	Het
Gvin2	A	C	7: 105,551,386 (GRCm39)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 120,162,620 (GRCm39)	G195W	probably damaging	Het
Hrc	A	T	7: 44,985,989 (GRCm39)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 26,409,665 (GRCm39)	Q863*	probably null	Het
Lemd2	G	A	17: 27,415,165 (GRCm39)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,773,172 (GRCm39)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,166,564 (GRCm39)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,286,387 (GRCm39)	T8A	unknown	Het
Mcm5	T	C	8: 75,848,344 (GRCm39)		probably null	Het
Med28	A	T	5: 45,680,794 (GRCm39)	D86V	probably damaging	Het
Mup11	A	G	4: 60,615,725 (GRCm39)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,370,542 (GRCm39)	F383L	probably benign	Het
Nid1	G	C	13: 13,642,970 (GRCm39)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm39)	V147A	probably benign	Het
Or12k8	A	G	2: 36,975,670 (GRCm39)	V30A	probably benign	Het
Pde9a	G	A	17: 31,639,258 (GRCm39)	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,411,826 (GRCm39)	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phf20l1	T	C	15: 66,476,638 (GRCm39)	I245T	probably benign	Het
Prmt8	C	T	6: 127,666,792 (GRCm39)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,355,430 (GRCm39)		probably null	Het
Prpf4b	T	A	13: 35,067,994 (GRCm39)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,617,416 (GRCm39)	L69P	probably damaging	Het
Robo3	A	T	9: 37,336,020 (GRCm39)	I482N	probably damaging	Het
Scara3	C	T	14: 66,168,715 (GRCm39)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,694,553 (GRCm39)	H397L	probably benign	Het
Skint11	T	A	4: 114,088,944 (GRCm39)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,396,536 (GRCm39)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,300,213 (GRCm39)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,576,643 (GRCm39)	K495E	probably benign	Het
Son	T	G	16: 91,458,990 (GRCm39)	D2072E	unknown	Het
Stau1	A	G	2: 166,805,494 (GRCm39)	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,262 (GRCm39)	L153I	possibly damaging	Het
Swi5	A	T	2: 32,177,922 (GRCm39)	V13E	probably benign	Het
Syne2	A	T	12: 76,078,172 (GRCm39)		probably null	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tep1	T	A	14: 51,062,013 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,667,151 (GRCm39)	V149A	probably benign	Het
Tmem214	T	A	5: 31,028,065 (GRCm39)	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,778,114 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,525,071 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,038,948 (GRCm39)	I841T	probably damaging	Het
Wasf2	G	A	4: 132,923,045 (GRCm39)	V452I	probably damaging	Het
Wdr62	C	T	7: 29,951,761 (GRCm39)	D673N	probably damaging	Het
Wdr95	C	T	5: 149,518,836 (GRCm39)	T559I	probably benign	Het
Zbtb40	A	T	4: 136,726,937 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,051,856 (GRCm39)	E646G	probably benign	Het

Other mutations in Dnai4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Dnai4	APN	4	102,960,439 (GRCm39)	missense	possibly damaging	0.77
IGL01508:Dnai4	APN	4	102,929,884 (GRCm39)	missense	possibly damaging	0.94
IGL01509:Dnai4	APN	4	102,929,884 (GRCm39)	missense	possibly damaging	0.94
IGL01511:Dnai4	APN	4	102,905,558 (GRCm39)	missense	possibly damaging	0.81
IGL01693:Dnai4	APN	4	102,944,527 (GRCm39)	splice site	probably null
IGL01731:Dnai4	APN	4	102,919,632 (GRCm39)	missense	probably benign	0.01
IGL02033:Dnai4	APN	4	102,923,490 (GRCm39)	missense	possibly damaging	0.58
IGL02100:Dnai4	APN	4	102,907,346 (GRCm39)	missense	probably damaging	1.00
IGL02218:Dnai4	APN	4	102,953,971 (GRCm39)	missense	probably damaging	1.00
IGL02226:Dnai4	APN	4	102,947,595 (GRCm39)	missense	probably benign	0.00
IGL02476:Dnai4	APN	4	102,944,545 (GRCm39)	missense	possibly damaging	0.46
IGL02929:Dnai4	APN	4	102,917,188 (GRCm39)	nonsense	probably null
R0070:Dnai4	UTSW	4	102,917,131 (GRCm39)	missense	probably damaging	1.00
R0377:Dnai4	UTSW	4	102,905,456 (GRCm39)	missense	probably damaging	1.00
R0433:Dnai4	UTSW	4	102,960,450 (GRCm39)	missense	probably benign	0.41
R0518:Dnai4	UTSW	4	102,921,727 (GRCm39)	nonsense	probably null
R0538:Dnai4	UTSW	4	102,953,815 (GRCm39)	missense	possibly damaging	0.65
R0624:Dnai4	UTSW	4	102,930,054 (GRCm39)	splice site	probably benign
R0894:Dnai4	UTSW	4	102,906,583 (GRCm39)	intron	probably benign
R1463:Dnai4	UTSW	4	102,944,615 (GRCm39)	missense	possibly damaging	0.95
R1818:Dnai4	UTSW	4	102,929,854 (GRCm39)	missense	possibly damaging	0.67
R2073:Dnai4	UTSW	4	102,907,390 (GRCm39)	missense	probably damaging	1.00
R2075:Dnai4	UTSW	4	102,907,390 (GRCm39)	missense	probably damaging	1.00
R2436:Dnai4	UTSW	4	102,923,549 (GRCm39)	missense	probably benign	0.01
R2851:Dnai4	UTSW	4	102,953,858 (GRCm39)	missense	probably benign	0.12
R2852:Dnai4	UTSW	4	102,953,858 (GRCm39)	missense	probably benign	0.12
R2853:Dnai4	UTSW	4	102,907,355 (GRCm39)	missense	possibly damaging	0.90
R4491:Dnai4	UTSW	4	102,923,596 (GRCm39)	missense	probably benign	0.04
R4792:Dnai4	UTSW	4	102,929,881 (GRCm39)	missense	possibly damaging	0.94
R5223:Dnai4	UTSW	4	102,906,600 (GRCm39)	missense	possibly damaging	0.87
R5290:Dnai4	UTSW	4	102,906,730 (GRCm39)	missense	probably benign	0.00
R5465:Dnai4	UTSW	4	102,906,758 (GRCm39)	missense	probably damaging	1.00
R5975:Dnai4	UTSW	4	102,906,786 (GRCm39)	missense	probably benign	0.03
R6239:Dnai4	UTSW	4	102,923,640 (GRCm39)	missense	probably benign
R6304:Dnai4	UTSW	4	102,944,553 (GRCm39)	missense	probably benign	0.35
R6456:Dnai4	UTSW	4	102,906,746 (GRCm39)	missense	probably benign	0.00
R6467:Dnai4	UTSW	4	102,906,758 (GRCm39)	missense	probably damaging	1.00
R6813:Dnai4	UTSW	4	102,905,523 (GRCm39)	missense	probably benign	0.26
R7161:Dnai4	UTSW	4	102,953,813 (GRCm39)	missense	probably benign	0.28
R7198:Dnai4	UTSW	4	102,919,610 (GRCm39)	missense	probably damaging	0.98
R7320:Dnai4	UTSW	4	102,907,384 (GRCm39)	missense	possibly damaging	0.68
R7742:Dnai4	UTSW	4	102,947,630 (GRCm39)	missense	probably benign
R7939:Dnai4	UTSW	4	102,953,798 (GRCm39)	nonsense	probably null
R8120:Dnai4	UTSW	4	102,923,531 (GRCm39)	missense	probably damaging	1.00
R8353:Dnai4	UTSW	4	102,917,113 (GRCm39)	missense	possibly damaging	0.63
R8453:Dnai4	UTSW	4	102,917,113 (GRCm39)	missense	possibly damaging	0.63
R8813:Dnai4	UTSW	4	102,947,697 (GRCm39)	missense	possibly damaging	0.53
R8870:Dnai4	UTSW	4	102,944,529 (GRCm39)	critical splice donor site	probably null
R8909:Dnai4	UTSW	4	102,944,607 (GRCm39)	missense	possibly damaging	0.91
R8957:Dnai4	UTSW	4	102,953,950 (GRCm39)	missense	probably damaging	1.00
R9035:Dnai4	UTSW	4	102,905,499 (GRCm39)	nonsense	probably null
R9060:Dnai4	UTSW	4	102,947,750 (GRCm39)	missense	probably benign	0.06
R9132:Dnai4	UTSW	4	102,916,930 (GRCm39)	missense	probably damaging	1.00
R9141:Dnai4	UTSW	4	102,906,743 (GRCm39)	missense	probably damaging	0.98
R9188:Dnai4	UTSW	4	102,939,332 (GRCm39)	missense
R9426:Dnai4	UTSW	4	102,906,743 (GRCm39)	missense	probably damaging	0.98
Z1176:Dnai4	UTSW	4	102,929,968 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AATGAGAAACCCTGCCTCCG -3'
(R):5'- AGTTTCAGTAGGCTGGGGTCAC -3'

Sequencing Primer
(F):5'- ACTGAGTCATGACAGTTGTCC -3'
(R):5'- TGTAATGCCACTAAGTGTCAGG -3'

Posted On

2019-06-26